Varaico: Literature-Extracted Genetic Variants

Gene:SDHAF1
Variant:p.C90S
Back to variants list

SDHAF1

NM_001042631.3:p.C90S

Associated Papers

Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.

Barretta F et al.

Genes, 2023

37239447 (PubMed )
Supplement: genes-14-01087-s001.zip › Supplementary_Table_S1_S1.xlsx › CASE_REPORT___MITNGS22_03_

Adrenal Corticomedullary Mixed Tumor Associated With the FGFR4-G388R Variant.

Kanzawa M et al.

Journal of the Endocrine Society, 2020

A novel patient-derived organoids-based xenografts model for preclinical drug response testing in patients with colorectal liver metastases.

Jian M et al.

Journal of Translational Medicine, 2020

32532289 (PubMed )
Supplement: 12967_2020_2407_MOESM2_ESM.xlsx › Table_S1A_356_SNV

Identification of FASTKD2 compound heterozygous mutations as the underlying cause of autosomal recessive MELAS-like syndrome.

Yoo DH et al.

Mitochondrion, 2017

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."