Varaico: Literature-Extracted Genetic Variants

Gene:COL6A5
Variant:p.T51M
Back to variants list

COL6A5

NM_001278298.2:p.T51M

Associated Papers

A recurrent de novo missense mutation in UBTF causes developmental neuroregression.

Toro C et al.

Human Molecular Genetics, 2018

29300972 (PubMed )
Supplement: supplementary_material_ddx435.pdf
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."