Varaico: Literature-Extracted Genetic Variants

Gene:POTEG
Variant:p.S7L
Back to variants list

POTEG

NM_001005356.3:p.S7L

Associated Papers

Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.

Fontana D et al.

Hemasphere, 2020

33196013 (PubMed )
Supplement: hs9-4-e497-s007.xlsx › Sheet1

A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder.

Puffenberger EG et al.

Human Mutation, 2012

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."