Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.C253fs
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SDHB

NM_003000.3:p.C253fs

Associated Papers

Germline Mutations and Phenotypic Associations in Korean Patients With Pheochromocytoma and Paraganglioma: A Multicenter Study and Literature Review.

Jo KH et al.

Annals of Laboratory Medicine, 2024

39069753 (PubMed )
Supplement: alm-44-6-591-supple.pdf

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

Implication and Influence of Multigene Panel Testing with Genetic Counseling in Korean Patients with BRCA1/2 Mutation-Negative Breast Cancer.

Park JS et al.

Cancer Research and Treatment, 2022

Frequency of genomic secondary findings among 21,915 eMERGE network participants.

Unknown Author

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32546831 (PubMed )
Supplement: NIHMS1615423-supplement-Supplementary_Table_2.xlsx › Sheet1
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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."