Varaico: Literature-Extracted Genetic Variants

Gene:ITSN1
Variant:p.Q654*
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ITSN1

NM_003024.3:p.Q654*

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

Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.

Tran Mau-Them F et al.

Molecular Genetics & Genomic Medicine, 2021

34716697 (PubMed )
Supplement: MGG3-9-e1836-s002.xlsx › Feuil1
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."