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
Late-onset pompe disease in Iran: A clinical and genetic report.
Nazari F et al.
Muscle & Nerve, 2017
Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome.
Moore I et al.
Blood, 2010
p53 dysfunction in B-cell chronic lymphocytic leukemia: inactivation of ATM as an alternative to TP53 mutation.
Pettitt AR et al.
Blood, 2001
Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences.
Teraoka SN et al.
American Journal of Human Genetics, 1999
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