Varaico: Literature-Extracted Genetic Variants

Gene:EXT1
Variant:p.C355R
Back to variants list

EXT1

NM_000127.3:p.C355R

Associated Papers

EXT1 and EXT2 Variants in 22 Chinese Families With Multiple Osteochondromas: Seven New Variants and Potentiation of Preimplantation Genetic Testing and Prenatal Diagnosis.

Wang Y et al.

Frontiers in Genetics, 2020

A combined analytical approach reveals novel EXT1/2 gene mutations in a large cohort of Italian multiple osteochondromas patients.

Signori E et al.

Genes, Chromosomes & Cancer, 2007

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."