Varaico: Literature-Extracted Genetic Variants

Gene:ITSN1
Variant:p.Q1636H
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ITSN1

NM_003024.3:p.Q1636H

Associated Papers

Further evidence of involvement of ITSN1 in autosomal dominant neurodevelopmental disorder.

Liaqat K et al.

Clinical Genetics, 2024

ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum.

Bruel AL et al.

European Journal of Human Genetics : Ejhg, 2022

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Zhang Y et al.

Molecular Neurobiology, 2021

33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_
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