Identification and validation of loss of function variants in clinical contexts
about
The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypesDeep sequencing of Danish Holstein dairy cattle for variant detection and insight into potential loss-of-function variants in protein coding genesComparison of insertion/deletion calling algorithms on human next-generation sequencing data.Detailed comparison of two popular variant calling packages for exome and targeted exon studiesChurchill: an ultra-fast, deterministic, highly scalable and balanced parallelization strategy for the discovery of human genetic variation in clinical and population-scale genomics.First gene-ontology enrichment analysis based on bacterial coregenome variants: insights into adaptations of Salmonella serovars to mammalian- and avian-hosts.Outlier response to anti-PD1 in uveal melanoma reveals germline MBD4 mutations in hypermutated tumors.
P2860
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P2860
Identification and validation of loss of function variants in clinical contexts
description
2013 nî lūn-bûn
@nan
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
2013年论文
@zh
2013年论文
@zh-cn
name
Identification and validation of loss of function variants in clinical contexts
@en
type
label
Identification and validation of loss of function variants in clinical contexts
@en
prefLabel
Identification and validation of loss of function variants in clinical contexts
@en
P2093
P2860
P50
P356
P1476
Identification and validation of loss of function variants in clinical contexts
@en
P2093
Chiara Bacchelli
Philip Beales
Vilma Mantovani
P2860
P356
10.1002/MGG3.42
P577
2013-10-11T00:00:00Z