Varaico: Literature-Extracted Genetic Variants

Gene:SDHC
Variant:p.Y126C
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SDHC

NM_003001.5:p.Y126C

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

Specification of frequency criteria for secondary findings genes to improve variant classification concordance.

Johnston JJ et al.

Biorxiv : the Preprint Server for Biology, 2025

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

Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders.

Halfmeyer I et al.

Genes, 2022

SDHC phaeochromocytoma and paraganglioma: A UK-wide case series.

Williams ST et al.

Clinical Endocrinology, 2022

Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Koyama T et al.

Bmc Cancer, 2019

30709382 (PubMed )
Supplement: 12885_2019_5313_MOESM2_ESM.xlsx › supplementary_2_filtered

Paragangliomas arise through an autonomous vasculo-angio-neurogenic program inhibited by imatinib.

Verginelli F et al.

Acta Neuropathologica, 2018

29305721 (PubMed )
Supplement: 401_2017_1799_MOESM1_ESM.pdf
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