Varaico: Literature-Extracted Genetic Variants

Gene:BCOR
Variant:p.G254D
Back to variants list

BCOR

NM_001123385.2:p.G254D

Associated Papers

A Missense Variant Affecting the N-Terminal Domain of the Laminin-332 β3 Chain Results in a Distinct Form of Junctional Epidermolysis Bullosa With Altered Granulation Tissue Response and No New Blistering: A Second Family Report.

Goldoni M et al.

Pediatric Dermatology, 0

39443834 (PubMed )
Supplement: PDE-42-410-s002.doc
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."