A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family.
about
Regional selection of the brain size regulating gene CASC5 provides new insight into human brain evolution."D40/KNL1/CASC5 and Autosomal Recessive Primary Microcephaly".Mutations of KIF14 Cause Primary Microcephaly by Impairing Cytokinesis.Kinetochore Malfunction in Human Pathologies.Molecular analysis of 23 Pakistani families with autosomal recessive primary microcephaly using targeted next-generation sequencing.Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome
P2860
A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family.
description
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name
A novel homozygous splicing mu ...... y in a large Pakistani family.
@en
type
label
A novel homozygous splicing mu ...... y in a large Pakistani family.
@en
prefLabel
A novel homozygous splicing mu ...... y in a large Pakistani family.
@en
P2093
P2860
P50
P1433
P1476
A novel homozygous splicing mu ...... y in a large Pakistani family.
@en
P2093
Abubakar Moawia
Angelika Anna Noegel
Holger Thiele
Ilknur Sur
Janine Altmüller
Sandra Szczepanski
Shahid Mahmood Baig
Syeda Seema Waseem
Uzma Abdullah
P2860
P2888
P304
P356
10.1007/S00439-015-1619-5
P577
2015-11-30T00:00:00Z
P6179
1029480360