Varaico: Literature-Extracted Genetic Variants

Gene:SDHD
Variant:p.E69*
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SDHD

NM_003002.4:p.E69*

Associated Papers

Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?

Gruber LM et al.

Endocrine Oncology (bristol, England), 2023

37434649 (PubMed )
Supplement: supplementary_table_1.xlsx › Missense_Variants

Immunohistochemistry and Mutation Analysis of SDHx Genes in Carotid Paragangliomas.

Snezhkina AV et al.

International Journal of Molecular Sciences, 2020

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

Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.

Andrews KA et al.

Journal of Medical Genetics, 2018

Exome analysis of carotid body tumor.

Snezhkina AV et al.

Bmc Medical Genomics, 2018

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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."