Varaico: Literature-Extracted Genetic Variants

Gene:SDHD
Variant:p.T112I
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SDHD

NM_003002.4:p.T112I

Associated Papers

Clinical integration of germline findings from a tumor testing precision medicine program.

Sanabria-Salas MC et al.

Bmc Cancer, 2025

39885482 (PubMed )
Supplement: 12885_2025_13487_MOESM1_ESM.pdf

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 › Missense_Variants

Investigation of germline variants in Bahraini women with breast cancer using next-generation sequencing based-multigene panel.

Al-Kafaji G et al.

Plos One, 2023

Novel germline mutations in the SDHB and SDHD genes in Japanese pheochromocytomas.

Isobe K et al.

Hormone Research, 2007

SDH mutations in patients affected by paraganglioma syndromes: a personal experience.

Mannelli M et al.

Annals of the New York Academy of Sciences, 2006

Phenotype variability of neural crest derived tumours in six Italian families segregating the same founder SDHD mutation Q109X.

Simi L et al.

Journal of Medical Genetics, 2005

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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."