Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice.
about
CRISPR/Cas9 targeting events cause complex deletions and insertions at 17 sites in the mouse genome.Novel human mutation and CRISPR/Cas genome-edited mice reveal the importance of C-terminal domain of MSX1 in tooth and palate development.Applications of the CRISPR/Cas9 system in murine cancer modeling.Looking beyond the genes: the role of non-coding variants in human disease.Copy-number variants and candidate gene mutations in isolated split hand/foot malformation.A Novel Heterozygous Intragenic Sequence Variant in DLX6 Probably Underlies First Case of Autosomal Dominant Split-Hand/Foot Malformation Type 1.Comparative musculoskeletal anatomy of chameleon limbs, with implications for the evolution of arboreal locomotion in lizards and for teratology.Mutations of PTPN23 in developmental and epileptic encephalopathy.Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion.Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.Noncoding copy-number variations are associated with congenital limb malformation.
P2860
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P2860
Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice.
description
2016 nî lūn-bûn
@nan
2016 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2016 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
name
Exome sequencing and CRISPR/Ca ...... imb defects in humans and mice
@nl
Exome sequencing and CRISPR/Ca ...... mb defects in humans and mice.
@ast
Exome sequencing and CRISPR/Ca ...... mb defects in humans and mice.
@en
type
label
Exome sequencing and CRISPR/Ca ...... imb defects in humans and mice
@nl
Exome sequencing and CRISPR/Ca ...... mb defects in humans and mice.
@ast
Exome sequencing and CRISPR/Ca ...... mb defects in humans and mice.
@en
prefLabel
Exome sequencing and CRISPR/Ca ...... imb defects in humans and mice
@nl
Exome sequencing and CRISPR/Ca ...... mb defects in humans and mice.
@ast
Exome sequencing and CRISPR/Ca ...... mb defects in humans and mice.
@en
P2093
P2860
P50
P921
P356
P1433
P1476
Exome sequencing and CRISPR/Ca ...... mb defects in humans and mice.
@en
P2093
Catherine Leettola
Charles E Schwartz
Denise Horn
Guntram Borck
Holger Thiele
Izabela Harabula
James U Bowie
Jamil Ahmad
Lars Wittler
Nadine Sowada
P2860
P304
P356
10.1101/GR.199430.115
P407
P50
P577
2016-01-11T00:00:00Z