Varaico: Literature-Extracted Genetic Variants

Gene:SDHD
Variant:p.L99fs
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SDHD

NM_003002.4:p.L99fs

Associated Papers

Preferential MGMT hypermethylation in SDH-deficient wild-type GIST.

Giger OT et al.

Journal of Clinical Pathology, 2023

Somatic Mutation Profiling in Head and Neck Paragangliomas.

Savvateeva M et al.

The Journal of Clinical Endocrinology and Metabolism, 2022

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

The prevalence of SDHB, SDHC, and SDHD mutations in patients with head and neck paraganglioma and association of mutations with clinical features.

Badenhop RF et al.

Journal of Medical Genetics, 2004

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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."