Varaico: Literature-Extracted Genetic Variants

Gene:BSCL2
Variant:p.S146_V147Splc
Back to variants list

BSCL2

NM_032667.6:p.S146_V147Splc

Associated Papers

A Patient with Congenital Generalized Lipodystrophy Due To a Novel Mutation in BSCL2: Indications for Secondary Mitochondrial Dysfunction.

Jeninga EH et al.

Jimd Reports, 2012

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."