Varaico: Literature-Extracted Genetic Variants

Gene:SDHD
Variant:p.D113fs
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SDHD

NM_003002.4:p.D113fs

Associated Papers

Genetic predisposition to pheochromocytoma and paraganglioma: 21 years of experience in the field.

Cardot-Bauters C et al.

Annales D'endocrinologie, 2024

Advancing Precision Oncology in Hereditary Paraganglioma-Pheochromocytoma Syndromes: Integrated Interpretation and Data Sharing of the Germline and Tumor Genomes.

Rana HQ et al.

Cancers, 2024

38473309 (PubMed )
Supplement: cancers-16-00947-s001.zip › Supplementary_Table_S2_-_INT2GRATE___HPPGL_Variant_Data_for_Patients__in_Cohort_2_.xlsx › Sheet1

Dutch founder SDHB exon 3 deletion in patients with pheochromocytoma-paraganglioma in South Africa.

Gordon DM et al.

Endocrine Connections, 2022

Prevalence of Germline Variants in a Large Cohort of Japanese Patients with Pheochromocytoma and/or Paraganglioma.

Yonamine M et al.

Cancers, 2021

Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma.

Richter S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

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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."