Varaico: Literature-Extracted Genetic Variants

Gene:HUWE1
Variant:p.R2982Q
Back to variants list

HUWE1

NM_031407.7:p.R2982Q

Associated Papers

Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants.

Leonardi E et al.

European Journal of Human Genetics : Ejhg, 2023

Confirming putative variants at ≤ 5% allele frequency using allele enrichment and Sanger sequencing.

Yan YH et al.

Scientific Reports, 2021

34079006 (PubMed )
Supplement: 41598_2021_91142_MOESM2_ESM.xlsx › FFPE
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."