Varaico: Literature-Extracted Genetic Variants

Gene:MATN3
Variant:p.R181Q
Back to variants list

MATN3

NM_002381.5:p.R181Q

Associated Papers

A novel homozygous missense variant in MATN3 causes spondylo-epimetaphyseal dysplasia Matrilin 3 type in a consanguineous family.

Yasin S et al.

European Journal of Medical Genetics, 2020

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."