Varaico: Literature-Extracted Genetic Variants

Gene:EXT1
Variant:p.Q352_A353Splc
Back to variants list

EXT1

NM_000127.3:p.Q352_A353Splc

Associated Papers

Genetic and functional analyses detect an EXT1 splicing pathogenic variant in a Chinese hereditary multiple exostosis (HME) family.

Li J et al.

Molecular Genetics & Genomic Medicine, 2022

Mutational Analysis of EXT1in a Chinese Family Affected by Hereditary Multiple Osteochondroma.

Yuan G et al.

Biomed Research International, 2021

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."