Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A36
Variant:p.R95Splc
Back to variants list

SLC25A36

NM_001104647.3:p.R95Splc

Associated Papers

Amino Acid Metabolism in Liver Mitochondria: From Homeostasis to Disease.

Erdal R et al.

Metabolites, 2025

Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation.

Safran A et al.

Journal of Inherited Metabolic Disease, 2023

PNC2 (SLC25A36) Deficiency Associated With the Hyperinsulinism/Hyperammonemia Syndrome.

Shahroor MA et al.

The Journal of Clinical Endocrinology and Metabolism, 2022

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."