"variant prioritization" trang 10 - tải miễn phí từ tailieunhanh
SLCO1B1 c.388A > G variant incidence and the severity of hyperbilirubinemia in Indonesian neonates

SLCO1B1 c.388A > G variant incidence and the severity of hyperbilirubinemia in Indonesian neonates
7    71    0
Ocular characteristics in a variant microcephalic primordial dwarfism type II

Ocular characteristics in a variant microcephalic primordial dwarfism type II
4    85    0
A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE

A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE
6    49    0
A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia

A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia
5    81    0
Cloacal reconstruction after a complex treatment of perineal haemangioma in a variant of PELVIS syndrome

Cloacal reconstruction after a complex treatment of perineal haemangioma in a variant of PELVIS syndrome
3    102    0
A folded and immunogenic IgE-hyporeactive variant of the major allergen Phl p 1 produced in Escherichia coli

A folded and immunogenic IgE-hyporeactive variant of the major allergen Phl p 1 produced in Escherichia coli
8    54    0
VARSCOT: Variant-aware detection and scoring enables sensitive and personalized off-target detection for CRISPR-Cas9

VARSCOT: Variant-aware detection and scoring enables sensitive and personalized off-target detection for CRISPR-Cas9
7    101    0
Constitutive expression of active microbial transglutaminase in Escherichia coli and comparative characterization to a known variant

Constitutive expression of active microbial transglutaminase in Escherichia coli and comparative characterization to a known variant
10    100    0
Effect of supercritical carbon dioxide on the enzymatic production of biodiesel from waste animal fat using immobilized Candida antarctica lipase B variant

Effect of supercritical carbon dioxide on the enzymatic production of biodiesel from waste animal fat using immobilized Candida antarctica lipase B variant
6    90    0
Modulation of plant growth in vivo and identification of kinase substrates using an analog-sensitive variant of CYCLINDEPENDENT KINASE A;1

Modulation of plant growth in vivo and identification of kinase substrates using an analog-sensitive variant of CYCLINDEPENDENT KINASE A;1
19    101    0
A rare case of pediatric recurrent rhabdomyolysis with compound heterogenous variants in the LPIN1

A rare case of pediatric recurrent rhabdomyolysis with compound heterogenous variants in the LPIN1
6    90    0
Intranasal perillyl alcohol therapy improves survival of patients with recurrent glioblastoma harboring mutant variant for MTHFR rs1801133 polymorphism

Intranasal perillyl alcohol therapy improves survival of patients with recurrent glioblastoma harboring mutant variant for MTHFR rs1801133 polymorphism
10    36    0
Technical advance in targeted NGS analysis enables identification of lung cancer riskassociated low frequency TP53, PIK3CA, and BRAF mutations in airway epithelial cells

Technical advance in targeted NGS analysis enables identification of lung cancer riskassociated low frequency TP53, PIK3CA, and BRAF mutations in airway epithelial cells
14    96    0
R269C variant of ESR1: High prevalence and differential function in a subset of pancreatic cancers

R269C variant of ESR1: High prevalence and differential function in a subset of pancreatic cancers
15    46    0
Analysis of the pathogenic variants of BRCA1 and BRCA2 using next-generation sequencing in women with familial breast cancer: A case–control study

Analysis of the pathogenic variants of BRCA1 and BRCA2 using next-generation sequencing in women with familial breast cancer: A case–control study
8    83    0
Association of newly identified genetic variant rs2853677 of TERT with non-small cell lung cancer and leukemia in population of Jammu and Kashmir, India

Association of newly identified genetic variant rs2853677 of TERT with non-small cell lung cancer and leukemia in population of Jammu and Kashmir, India
8    57    0
Histone profiling reveals the H1.3 histone variant as a prognostic biomarker for pancreatic ductal adenocarcinoma

Histone profiling reveals the H1.3 histone variant as a prognostic biomarker for pancreatic ductal adenocarcinoma
9    57    1
Effect of genetic variants and traits related to glucose metabolism and their interaction with obesity on breast and colorectal cancer risk among postmenopausal women

Effect of genetic variants and traits related to glucose metabolism and their interaction with obesity on breast and colorectal cancer risk among postmenopausal women
14    60    1
Prognostic value of OCT4A and SPP1C transcript variant co-expression in earlystage lung adenocarcinoma

Prognostic value of OCT4A and SPP1C transcript variant co-expression in earlystage lung adenocarcinoma
13    25    1
The contribution of the rs55705857 G allele to familial cancer risk as estimated in the Utah population database

The contribution of the rs55705857 G allele to familial cancer risk as estimated in the Utah population database
6    56    1