Varaico: Literature-Extracted Genetic Variants

Gene:SDHD
Variant:p.L19fs
Back to variants list

SDHD

NM_003002.4:p.L19fs

Associated Papers

Single-nuclei and bulk-tissue gene-expression analysis of pheochromocytoma and paraganglioma links disease subtypes with tumor microenvironment.

Zethoven M et al.

Nature Communications, 2022

36271074 (PubMed )
Supplement: 41467_2022_34011_MOESM4_ESM.xlsx › Supplementary_Data_1

Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma.

Richter S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30050099 (PubMed )
Supplement: NIHMS1505462-supplement-Supplementary_information_3.xlsx › SDHx_variants
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."