Varaico: Literature-Extracted Genetic Variants

Gene:CHD1
Variant:p.L1517fs
Back to variants list

CHD1

NM_001270.4:p.L1517fs

Associated Papers

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome.

Anderson KJ et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40385454 (PubMed )
Supplement: media-1.xlsx › Supp._Table_2_-_LOF___splice

Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.

Li K et al.

Ebiomedicine, 2024

38113761 (PubMed )
Supplement: mmc2.xlsx › Table_S4
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."