Varaico: Literature-Extracted Genetic Variants

Gene:EXT1
Variant:p.R605Q
Back to variants list

EXT1

NM_000127.3:p.R605Q

Associated Papers

A Copernican revolution of multigenic analysis: A retrospective study on clinical exome sequencing in unclear genetic disorders.

Chetta M et al.

Computational and Structural Biotechnology Journal, 2024

Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer.

Moradian MM et al.

Human Genome Variation, 2021

33558524 (PubMed )
Supplement: 41439_2021_140_MOESM2_ESM.xlsx › Table_1
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."