Varaico: Literature-Extracted Genetic Variants

Gene:ITSN1
Variant:p.E576*
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ITSN1

NM_003024.3:p.E576*

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

Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes.

Feliciano P et al.

Npj Genomic Medicine, 2019

Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

Temko D et al.

The Journal of Pathology, 2018

29604063 (PubMed )
Supplement: PATH-245-283-s022.xlsx › CRC.Drivers.Edited
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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."