Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PMM2

Variant:p.T226N

Back to variants list

PMM2

NM_000303.3:p.T226N

hg38:chr16:8847761 C>A

Associated Papers

A comprehensive update of genotype-phenotype correlations in PMM2-CDG: insights from molecular and structural analyses.

Oliveira T et al.

Orphanet Journal of Rare Diseases, 2025

40307862 (PubMed )

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."