Varaico: Literature-Extracted Genetic Variants

Gene:SHKBP1
Variant:p.L106R
Back to variants list

SHKBP1

NM_138392.4:p.L106R

Associated Papers

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.

Oláhová M et al.

American Journal of Human Genetics, 2018

29478781 (PubMed )
Supplement: mmc2.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."