Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly.

Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly.

Item
http://www.wikidata.org/entity/Q33296331
Importance of the CEP215-pericentrin interaction for centrosome maturation during mitosisAutosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuumMicrotubule plus-end tracking proteins in neuronal developmentChromosomal Rearrangements as Barriers to Genetic Homogenization between Archaic and Modern HumansClinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation.Molecular genetics of human primary microcephaly: an overview.Mutations in CDK5RAP2 cause Seckel syndromeExome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosumLoss of CDK5RAP2 affects neural but not non-neural mESC differentiation into cardiomyocytes.Functional characterization of CDK5 and CDK5R1 mutations identified in patients with non-syndromic intellectual disability.A new association between CDK5RAP2 microcephaly and congenital cataracts.Compound heterozygote CDK5RAP2 mutations in a Guatemalan/Honduran child with autosomal recessive primary microcephaly, failure to thrive and speech delay.
P2860

Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly.

Item
http://www.wikidata.org/entity/Q33296331
description
2007 nî lūn-bûn
@nan
2007 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Previously described sequence ...... ecessive primary microcephaly.
@ast
Previously described sequence ...... ecessive primary microcephaly.
@en
Previously described sequence ...... ecessive primary microcephaly.
@nl
type
label
Previously described sequence ...... ecessive primary microcephaly.
@ast
Previously described sequence ...... ecessive primary microcephaly.
@en
Previously described sequence ...... ecessive primary microcephaly.
@nl
prefLabel
Previously described sequence ...... ecessive primary microcephaly.
@ast
Previously described sequence ...... ecessive primary microcephaly.
@en
Previously described sequence ...... ecessive primary microcephaly.
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P478
P577
P5875
P6179
P698
P921
P932
P356
P1433
P1476
Previously described sequence ...... ecessive primary microcephaly.
@en
P2093
P2860
P2888
P304
P31
P356
P478
P577
P5875
P6179
P698
P921
P932