Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicity
about
In Silico Functional Annotation of Genomic Variation.Microsatellite instability use in mismatch repair gene sequence variant classificationLynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations.Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples.Biallelic BRCA2 mutations in two black South African children with Fanconi anaemia.Implementation of next-generation sequencing for molecular diagnosis of hereditary breast and ovarian cancer highlights its genetic heterogeneity.Biochemical and cellular consequences of the antithrombin p.Met1? mutation identified in a severe thrombophilic family
P2860
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P2860
Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicity
description
2013 nî lūn-bûn
@nan
2013 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Consequences of germline varia ...... edicting variant pathogenicity
@ast
Consequences of germline varia ...... edicting variant pathogenicity
@en
type
label
Consequences of germline varia ...... edicting variant pathogenicity
@ast
Consequences of germline varia ...... edicting variant pathogenicity
@en
prefLabel
Consequences of germline varia ...... edicting variant pathogenicity
@ast
Consequences of germline varia ...... edicting variant pathogenicity
@en
P2093
P2860
P50
P356
P1476
Consequences of germline varia ...... edicting variant pathogenicity
@en
P2093
Australasian Colorectal Cancer Family Registry
Bryony A Thompson
Kathy Tucker
Linda Warwick
Louise Marquart
Mark Drost
Niels de Wind
Phillip J Whiley
P2860
P304
P356
10.1002/MC.22116
P50
P577
2013-12-02T00:00:00Z