Varaico: Literature-Extracted Genetic Variants

Gene:SLC37A1
Variant:p.S415C
Back to variants list

SLC37A1

NM_001320537.2:p.S415C

Associated Papers

Mutation profiling in eight cases of vagal paragangliomas.

Kudryavtseva AV et al.

Bmc Medical Genomics, 2020

32948195 (PubMed )
Supplement: 12920_2020_763_MOESM1_ESM.xls › Pat1

MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy.

Bugiardini E et al.

Human Molecular Genetics, 2019

31039582 (PubMed )
Supplement: hmg-2019-d-00137_bugiardini_r1_supplementary_table_s1_ddz093.xlsx › Supplementary_table
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."