Varaico: Literature-Extracted Genetic Variants

Gene:HEPACAM
Variant:p.G45S
Back to variants list

HEPACAM

NM_152722.5:p.G45S

Associated Papers

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

Anderson EN et al.

American Journal of Human Genetics, 2026

41468891 (PubMed )
Supplement: mmc1.pdf

Clinical variants paired with phenotype: A rich resource for brain gene curation.

Chopra M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024

38059438 (PubMed )
Supplement: NIHMS1951004-supplement-1.xlsx › All_Variants
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."