Associated Papers
Estimated global prevalence of genetic carriers of hereditary pheochromocytoma-paraganglioma syndrome in a large multiethnic genomic database.
Charoenngam N et al.
European Journal of Endocrinology, 2025
40974092 (PubMed )
Supplement: lvaf191_supplementary_data.docx
SDHA-related phaeochromocytoma and paraganglioma: review and clinical management.
Kaplan AI et al.
Endocrine-related Cancer, 2024
In-silico Analysis of NF1 Missense Variants in ClinVar: Translating Variant Predictions into Variant Interpretation and Classification.
Accetturo M et al.
International Journal of Molecular Sciences, 2020
31979111 (PubMed )
Supplement: ijms-21-00721-s001.zip › ijms-614345-supplementary_files › Supplementary_Table_S3.xlsx › Suppl._Table_S3
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A et al.
Nature Communications, 2019
31175295 (PubMed )
Supplement: 41467_2019_10482_MOESM8_ESM.xlsx › Supplementary_Data_5
Pathogenicity and Penetrance of Germline SDHA Variants in Pheochromocytoma and Paraganglioma (PPGL).
Maniam P et al.
Journal of the Endocrine Society, 2018
29978154 (PubMed )
Supplement: js.2018-00120.sd1.docx
Novel SNPs and InDels discovered in two promoter regions of porcine pregnancy-associated glycoprotein 2-like subfamily (pPAG2-Ls) in crossbreed pigs.
Bieniek-Kobuszewska M et al.
Functional & Integrative Genomics, 2016
Loss of expression of SDHA predicts SDHA mutations in gastrointestinal stromal tumors.
Wagner AJ et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2013
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