Varaico: Literature-Extracted Genetic Variants

Gene:FHL1
Variant:p.G230Splc
Back to variants list

FHL1

NM_001159702.3:p.G230Splc

Associated Papers

Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature Cardiac Death.

Xue Y et al.

Circulation. Cardiovascular Genetics, 2016

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."