Varaico: Literature-Extracted Genetic Variants

Gene:ITSN1
Variant:p.L1700R
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ITSN1

NM_003024.3:p.L1700R

Associated Papers

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

Liaqat K et al.

Clinical Genetics, 2024

Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.

Wang T et al.

Ebiomedicine, 2022

35665681 (PubMed )
Supplement: mmc24.xlsx › Sheet1

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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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."