Varaico: Literature-Extracted Genetic Variants

Gene:SDHD
Variant:p.M1K
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SDHD

NM_003002.4:p.M1K

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

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

Guha A et al.

Frontiers in Endocrinology, 2023

Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Dong X et al.

Communications Biology, 2020

31925297 (PubMed )
Supplement: 42003_2019_736_MOESM3_ESM.xlsx › Sheet1

Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2.

Higuchi Y et al.

Annals of Neurology, 2016

Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients.

Piccini V et al.

Endocrine-related Cancer, 2012

Common genetic mutations in the start codon of the SDH subunit D gene among Chinese families with familial head and neck paragangliomas.

Wang CP et al.

Oral Oncology, 2012

Novel SDHD germ-line mutations in pheochromocytoma patients.

Neumayer C et al.

European Journal of Clinical Investigation, 2007

Absence of BRAF mutation in pheochromocytoma and paraganglioma.

Vosecka T et al.

Neoplasma, 0

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