Varaico: Literature-Extracted Genetic Variants

Gene:SDHD
Variant:p.R70S
Back to variants list

SDHD

NM_003002.4:p.R70S

Associated Papers

High incidence of occult familial SDHD cases amongst Czech patients with head and neck paragangliomas.

Guha A et al.

Frontiers in Endocrinology, 2023

Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.

Garrett A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022

34906457 (PubMed )
Supplement: mmc1.xlsx › SupTable2_Variant_Counts

Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency.

Lin S et al.

European Journal of Human Genetics : Ejhg, 2021

34012134 (PubMed )
Supplement: 41431_2021_887_MOESM1_ESM.docx

Mutation Frequency in Main Susceptibility Genes Among Patients With Head and Neck Paragangliomas.

Snezhkina AV et al.

Frontiers in Genetics, 2020

33391357 (PubMed )
Supplement: Data_Sheet_1.PDF

Exome analysis of carotid body tumor.

Snezhkina AV et al.

Bmc Medical Genomics, 2018

29504908 (PubMed )
Supplement: 12920_2018_327_MOESM3_ESM.xlsx › s2

In Vivo Detection of Succinate by Magnetic Resonance Spectroscopy as a Hallmark of SDHx Mutations in Paraganglioma.

Lussey-Lepoutre C et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2016

[Myocardial calcinosis in a juvenile patient with Wermer syndrome (multiple endocrine neoplasia type I)].

Stefenelli T et al.

Wiener Klinische Wochenschrift, 1992

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."