Varaico: Literature-Extracted Genetic Variants

Gene:SARDH
Variant:p.R167W
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SARDH

NM_001134707.2:p.R167W

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 › Truncating_Variants

Utility of Population-Level DNA Sequence Data in the Diagnosis of Hereditary Endocrine Disease.

Newey PJ et al.

Journal of the Endocrine Society, 2017

29308445 (PubMed )
Supplement: js-01-12-1507.st1.docx

Von Hippel-Lindau disease.

Chittiboina P et al.

Handbook of Clinical Neurology, 2015

Neurocutaneous syndromes: pheochromocytomas associated with von Hippel-Lindau syndrome.

Lee KR et al.

The Journal of the Kansas Medical Society, 1977

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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."