"Missense mutation" trang 1 - tải miễn phí từ tailieunhanh
E2-EPF UCP regulates stability and functions of missense mutant pVHL via ubiquitin mediated proteolysis

E2-EPF UCP regulates stability and functions of missense mutant pVHL via ubiquitin mediated proteolysis
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Machine learning classifier for identification of damaging missense mutations exclusive to human mitochondrial DNA-encoded polypeptides

Machine learning classifier for identification of damaging missense mutations exclusive to human mitochondrial DNA-encoded polypeptides
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Predicting the most deleterious missense nsSNPs of the protein isoforms of the human HLA-G gene and in silico evaluation of their structural and functional consequences

Predicting the most deleterious missense nsSNPs of the protein isoforms of the human HLA-G gene and in silico evaluation of their structural and functional consequences
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A de novo SCN8A heterozygous mutation in a child with epileptic encephalopathy: A case report

A de novo SCN8A heterozygous mutation in a child with epileptic encephalopathy: A case report
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A novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: A case report and review of the mutation spectrum

A novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: A case report and review of the mutation spectrum
6    57    0
A novel Bruton’s tyrosine kinase gene (BTK) missense mutation in a Chinese family with X-linked agammaglobulinemia

A novel Bruton’s tyrosine kinase gene (BTK) missense mutation in a Chinese family with X-linked agammaglobulinemia
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Báo cáo khoa hoc:

Báo cáo khoa hoc:"Association of a missense mutation in the bovine leptin gene with carcass fat content and leptin mRNA levels"
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Báo cáo y học:

Báo cáo y học: "Exome sequencing identifies a missense mutation in Isl1 associated with low penetrance otitis media in dearisch mice"
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Báo cáo khoa học: A novel factor XI missense mutation (Val371Ile) in the activation loop is responsible for a case of mild type II factor XI deficiency

Báo cáo khoa học: A novel factor XI missense mutation (Val371Ile) in the activation loop is responsible for a case of mild type II factor XI deficiency
11    60    0
Báo cáo khóa học: Emerin binding to Btf, a death-promoting transcriptional repressor, is disrupted by a missense mutation that causes Emery–Dreifuss muscular dystrophy

Báo cáo khóa học: Emerin binding to Btf, a death-promoting transcriptional repressor, is disrupted by a missense mutation that causes Emery–Dreifuss muscular dystrophy
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Nghiên cứu một số đột biến thay thế amino axít (missense mutation) trên Gen CXCL1 ở người bị phơi nhiễm asen

Nghiên cứu một số đột biến thay thế amino axít (missense mutation) trên Gen CXCL1 ở người bị phơi nhiễm asen
8    65    0
A missense mutation of plastid RPS4 is associated with chlorophyll deficiency in Chinese cabbage (Brassica campestris ssp. pekinensis)

A missense mutation of plastid RPS4 is associated with chlorophyll deficiency in Chinese cabbage (Brassica campestris ssp. pekinensis)
11    64    0
Nonsense and missense mutation of mitochondrial ND6 gene promotes cell migration and invasion in human lung adenocarcinoma

Nonsense and missense mutation of mitochondrial ND6 gene promotes cell migration and invasion in human lung adenocarcinoma
10    37    1
Recurrent pneumothorax and intrapulmonary cavitary lesions in a male patient with vascular Ehlers-Danlos syndrome and a novel missense mutation in the COL3A1 gene: A case report

Recurrent pneumothorax and intrapulmonary cavitary lesions in a male patient with vascular Ehlers-Danlos syndrome and a novel missense mutation in the COL3A1 gene: A case report
7    28    1
A novel missense mutation in the gene encoding major intrinsic protein (MIP) in a Giant panda with unilateral cataract formation

A novel missense mutation in the gene encoding major intrinsic protein (MIP) in a Giant panda with unilateral cataract formation
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Corrupted DNA-binding specificity and ectopic transcription underpin dominant neomorphic mutations in KLF/SP transcription factors

Corrupted DNA-binding specificity and ectopic transcription underpin dominant neomorphic mutations in KLF/SP transcription factors
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Evaluation of the structural impact of the missense mutation JAK2 V617F in janus kinase 2 by docking study

Evaluation of the structural impact of the missense mutation JAK2 V617F in janus kinase 2 by docking study
6    25    1
A de novo missense mutation of FGFR2 causes facial dysplasia syndrome in Holstein cattle

A de novo missense mutation of FGFR2 causes facial dysplasia syndrome in Holstein cattle
9    9    1
A novel missense mutation in complement factor I predisposes patients to atypical hemolytic uremic syndrome: A case report

A novel missense mutation in complement factor I predisposes patients to atypical hemolytic uremic syndrome: A case report
6    13    1
Deploying new generation sequencing for the study of flesh color depletion in Atlantic Salmon (Salmo salar)

Deploying new generation sequencing for the study of flesh color depletion in Atlantic Salmon (Salmo salar)
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