Varaico: Literature-Extracted Genetic Variants

Gene:SLC29A3
Variant:p.M1R
Back to variants list

SLC29A3

NM_018344.6:p.M1R

Associated Papers

Phenotypic intrafamilial variability including H syndrome and Rosai-Dorfman disease associated with the same c.1088G > A mutation in the SLC29A3 gene.

Chouk H et al.

Human Genomics, 2021

Sclerosteosis: Report of type 1 or 2 in three Indian Tamil families and literature review.

Whyte MP et al.

Bone, 2018

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."