"Pathogenic variants" trang 1 - tải miễn phí từ tailieunhanh
Identification of pathogenic variants in cancer genes using base editing screens with editing efficiency correction

Identification of pathogenic variants in cancer genes using base editing screens with editing efficiency correction
25    23    1
Three-dimensional spatial analysis of missense variants in RTEL1 identifies pathogenic variants in patients with Familial Interstitial Pneumonia

Three-dimensional spatial analysis of missense variants in RTEL1 identifies pathogenic variants in patients with Familial Interstitial Pneumonia
10    48    1
Prevalence of BRCA1 and BRCA2 pathogenic sequence variants in ovarian cancer patients in the Gulf region: The PREDICT study

Prevalence of BRCA1 and BRCA2 pathogenic sequence variants in ovarian cancer patients in the Gulf region: The PREDICT study
8    27    3
Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa

Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa
19    19    1
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
Prevalence of BRCA1 and BRCA2 pathogenic and likely pathogenic variants in nonselected ovarian carcinoma patients in Brazil

Prevalence of BRCA1 and BRCA2 pathogenic and likely pathogenic variants in nonselected ovarian carcinoma patients in Brazil
9    36    1
Relation between DNA ionization potentials, single base substitutions and pathogenic variants

Relation between DNA ionization potentials, single base substitutions and pathogenic variants
11    42    1
NCBoost classifies pathogenic non-coding variants in Mendelian diseases through supervised learning on purifying selection signals in humans

NCBoost classifies pathogenic non-coding variants in Mendelian diseases through supervised learning on purifying selection signals in humans
22    28    1
Effects of pathogenic CNVs on physical traits in participants of the UK Biobank

Effects of pathogenic CNVs on physical traits in participants of the UK Biobank
9    59    1
RegSNPs-intron: A computational framework for predicting pathogenic impact of intronic single nucleotide variants

RegSNPs-intron: A computational framework for predicting pathogenic impact of intronic single nucleotide variants
16    55    3
PINES: Phenotype-informed tissue weighting improves prediction of pathogenic noncoding variants

PINES: Phenotype-informed tissue weighting improves prediction of pathogenic noncoding variants
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Identification of a mutation in a Vietnamese family with autosomal dominant polycystic kidney disease using whole exome sequencing

Identification of a mutation in a Vietnamese family with autosomal dominant polycystic kidney disease using whole exome sequencing
7    4    1
Homozygous missense variant F12 (Gly506Asp) associated with severe factor XII deficiency: A case report

Homozygous missense variant F12 (Gly506Asp) associated with severe factor XII deficiency: A case report
4    9    1
Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set

Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set
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Expression patterns of ciliopathy genes ARL3 and CEP120 reveal roles in multisystem development

Expression patterns of ciliopathy genes ARL3 and CEP120 reveal roles in multisystem development
11    40    1
Evaluation of a target region capture sequencing platform using monogenic diabetes as a study-model

Evaluation of a target region capture sequencing platform using monogenic diabetes as a study-model
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