Varaico: Literature-Extracted Genetic Variants

Gene:INTS1
Variant:p.M549V
Back to variants list

INTS1

NM_001080453.3:p.M549V

Associated Papers

Novel Biallelic INTS1 Variants May Expand the Phenotypic Spectrum of INTS1-Related Disorders-Case Report and Literature Review.

Wnuk-Kłosińska A et al.

Genes, 2025

A deleterious variant of INTS1 leads to disrupted sleep-wake cycles.

Confino S et al.

Disease Models & Mechanisms, 2024

39189071 (PubMed )
Supplement: dmm-17-050746-TableS2.xlsx › Sheet1

Biallelic INTS1 Mutations Cause a Rare Neurodevelopmental Disorder in Two Chinese Siblings.

Zhang X et al.

Journal of Molecular Neuroscience : Mn, 2020

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."