Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:B3GAT3

Variant:p.M1V

Back to variants list

B3GAT3

NM_001288721.2:p.M1V

hg38:chr11:62621115 T>C

Associated Papers

The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature review.

Colman M et al.

Orphanet Journal of Rare Diseases, 2019

31196143 (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."