Varaico: Literature-Extracted Genetic Variants

Gene:SDHD
Variant:p.L19delFs
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SDHD

NM_003002.4:p.L19delFs

Associated Papers

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

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

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

Yonamine M et al.

Cancers, 2021

Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.

Andrews KA et al.

Journal of Medical Genetics, 2018

Human Metabolic Enzymes Deficiency: A Genetic Mutation Based Approach.

Chaturvedi S et al.

Scientifica, 2016

Inherited gastrointestinal stromal tumor syndromes: mutations, clinical features, and therapeutic implications.

Postow MA et al.

Clinical Sarcoma Research, 2012

Mediastinal paragangliomas: association with mutations in the succinate dehydrogenase genes and aggressive behavior.

Ghayee HK et al.

Endocrine-related Cancer, 2009

Mutations associated with succinate dehydrogenase D-related malignant paragangliomas.

Timmers HJ et al.

Clinical Endocrinology, 2008

Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD.

Pasini B et al.

European Journal of Human Genetics : Ejhg, 2008

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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."