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Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin typeCRIM1 haploinsufficiency causes defects in eye development in human and mouse.Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal associationLoss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 SignalingMutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.
P50
description
wetenschapper
@nl
name
Nurten A Akarsu
@en
Nurten A Akarsu
@nl
type
label
Nurten A Akarsu
@en
Nurten A Akarsu
@nl
prefLabel
Nurten A Akarsu
@en
Nurten A Akarsu
@nl
P31
P496
0000-0001-5432-0032