about
A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.A novel single base pair duplication in WDR62 causes primary microcephaly.Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability.CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays.
P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Verena Rupp
@ast
Verena Rupp
@en
Verena Rupp
@es
Verena Rupp
@nl
type
label
Verena Rupp
@ast
Verena Rupp
@en
Verena Rupp
@es
Verena Rupp
@nl
prefLabel
Verena Rupp
@ast
Verena Rupp
@en
Verena Rupp
@es
Verena Rupp
@nl
P106
P31
P496
0000-0003-0234-3325