Varaico: Literature-Extracted Genetic Variants

Gene:MYBPH
Variant:p.L180P
Back to variants list

MYBPH

NM_004997.3:p.L180P

Associated Papers

LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency.

Stowe RC et al.

American Journal of Medical Genetics. Part A, 2018

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."