Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1
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Mutational analysis of FUS gene and its structural and functional role in amyotrophic lateral sclerosis 6.Computational Analysis Reveals the Association of Threonine 118 Methionine Mutation in PMP22 Resulting in CMT-1AEvidence of colorectal cancer-associated mutation in MCAK: a computational report.A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1Genetic testing in hereditary breast and ovarian cancer using massive parallel sequencingPrevalence of BRCA1 mutations in familial and sporadic greek ovarian cancer cases.BRCA1 Circos: a visualisation resource for functional analysis of missense variants.In silico screening and molecular dynamics simulation of disease-associated nsSNP in TYRP1 gene and its structural consequences in OCA3.BaxΔ2 Family Alternative Splicing Salvages Bax Microsatellite-Frameshift Mutations.Cancer predisposing mutations in BRCT domains.Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance.Germline missense pathogenic variants in the BRCA1 BRCT domain, p.Gly1706Glu and p.Ala1708Glu, increase cellular sensitivity to PARP inhibitor olaparib by a dominant negative effect.Multimodel assessment of BRCA1 mutations in Taiwanese (ethnic Chinese) women with early-onset, bilateral or familial breast cancer.Computational screening of disease-associated mutations in OCA2 gene.Mutational Analysis on Membrane Associated Transporter Protein (MATP) and Their Structural Consequences in Oculocutaeous Albinism Type 4 (OCA4)-A Molecular Dynamics Approach.Tryptophan to Glycine mutation in the position 116 leads to protein aggregation and decreases the stability of the LITAF protein
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P2860
Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1
description
article científic
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article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
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scientific article published on 17 October 2008
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1
@en
Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1.
@nl
type
label
Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1
@en
Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1.
@nl
prefLabel
Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1
@en
Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1.
@nl
P2093
P2860
P50
P1433
P1476
Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1
@en
P2093
Blase Billack
Danielle C Vaz
Graeme Suthers
Jennifer Beddor
Maria A Pino
Martha Godinho-Netto
Rachel Karchin
Renato S Rodarte
Richard Rosenquist
P2860
P356
10.1016/J.MRFMMM.2008.09.017
P407
P50
P577
2008-10-17T00:00:00Z