Characterisation and validation of insertions and deletions in 173 patient exomes
about
XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencingClinical validation of KRAS, BRAF, and EGFR mutation detection using next-generation sequencing.Whole-exome sequencing of over 4100 men of African ancestry and prostate cancer risk.Implications of genetic testing in noncompaction/hypertrabeculation.Identification and validation of loss of function variants in clinical contextsInterpretation, stratification and evidence for sequence variants affecting mRNA splicing in complete human genome sequences.
P2860
Characterisation and validation of insertions and deletions in 173 patient exomes
description
2012 nî lūn-bûn
@nan
2012 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Characterisation and validation of insertions and deletions in 173 patient exomes
@ast
Characterisation and validation of insertions and deletions in 173 patient exomes
@en
Characterisation and validation of insertions and deletions in 173 patient exomes
@nl
type
label
Characterisation and validation of insertions and deletions in 173 patient exomes
@ast
Characterisation and validation of insertions and deletions in 173 patient exomes
@en
Characterisation and validation of insertions and deletions in 173 patient exomes
@nl
prefLabel
Characterisation and validation of insertions and deletions in 173 patient exomes
@ast
Characterisation and validation of insertions and deletions in 173 patient exomes
@en
Characterisation and validation of insertions and deletions in 173 patient exomes
@nl
P2093
P2860
P50
P1433
P1476
Characterisation and validation of insertions and deletions in 173 patient exomes
@en
P2093
Aoife Waters
Chiara Bacchelli
Dalia Kasperavičiūtė
Estelle Chanudet
Gian Paolo Tonini
Henry Houlden
John Anderson
Julie Williams
Justyna Osinska
Khalid Hussain
P2860
P304
P356
10.1371/JOURNAL.PONE.0051292
P407
P50
P577
2012-12-14T00:00:00Z