Towards Increasing the Clinical Relevance of In Silico Methods to Predict Pathogenic Missense Variants
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Comparison of Bioinformatics Prediction, Molecular Modeling, and Functional Analyses of FOXC1 Mutations in Patients with Axenfeld-Rieger SyndromeMolecular and functional characterization of the BMPR2 gene in Pulmonary Arterial HypertensionProtein function in precision medicine: deep understanding with machine learning.Aggregation of population-based genetic variation over protein domain homologues and its potential use in genetic diagnostics.IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I.A phenotype centric benchmark of variant prioritisation tools.Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches.Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.γ2 GABAR Trafficking and the Consequences of Human Genetic VariationArchitecture of polymorphisms in the human genome reveals functionally important and positively selected variants in immune response and drug transporter genes
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P2860
Towards Increasing the Clinical Relevance of In Silico Methods to Predict Pathogenic Missense Variants
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年学术文章
@wuu
2016年学术文章
@zh-cn
2016年学术文章
@zh-hans
2016年学术文章
@zh-my
2016年学术文章
@zh-sg
2016年學術文章
@yue
2016年學術文章
@zh
2016年學術文章
@zh-hant
name
Towards Increasing the Clinica ...... t Pathogenic Missense Variants
@ast
Towards Increasing the Clinica ...... t Pathogenic Missense Variants
@en
type
label
Towards Increasing the Clinica ...... t Pathogenic Missense Variants
@ast
Towards Increasing the Clinica ...... t Pathogenic Missense Variants
@en
prefLabel
Towards Increasing the Clinica ...... t Pathogenic Missense Variants
@ast
Towards Increasing the Clinica ...... t Pathogenic Missense Variants
@en
P2860
P1476
Towards Increasing the Clinica ...... t Pathogenic Missense Variants
@en
P2093
David L Masica
Rachel Karchin
P2860
P304
P356
10.1371/JOURNAL.PCBI.1004725
P577
2016-05-01T00:00:00Z
2016-05-12T00:00:00Z