Varaico: Literature-Extracted Genetic Variants

Gene:SDHD
Variant:p.V111I
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SDHD

NM_003002.4:p.V111I

Associated Papers

Clinicopathological and genomic analysis of pediatric pheochromocytoma and sympathetic paraganglioma.

Kimura N et al.

Endocrine Journal, 2025

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

Variant spectrum of von Hippel-Lindau disease and its genomic heterogeneity in Japan.

Tamura K et al.

Human Molecular Genetics, 2023

36905328 (PubMed )
Supplement: suple_tables_vhl_v6_0_ddad039.xlsx › Supple_Table4

Rare germline variants in pancreatic cancer and multiple primary cancers: an autopsy study.

Fujitani H et al.

European Journal of Cancer Prevention : the Official Journal of the European Cancer Prevention Organisation (ecp), 2023

36896836 (PubMed )
Supplement: ejcp-32-286-s002.pdf

Clinical utility of Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan.

Kage H et al.

Cancer Science, 2023

36601953 (PubMed )
Supplement: CAS-114-1710-s001.xlsx › Sup_Table_3

Characteristics of germline mutations in Korean patients with pheochromocytoma/paraganglioma.

Kim JH et al.

Journal of Medical Genetics, 2022

Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency.

Lin S et al.

European Journal of Human Genetics : Ejhg, 2021

34012134 (PubMed )
Supplement: 41431_2021_887_MOESM1_ESM.docx

Germline mutations and genotype-phenotype correlations in patients with apparently sporadic pheochromocytoma/paraganglioma in Korea.

Kim JH et al.

Clinical Genetics, 2014

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

Isobe K et al.

Hormone Research, 2007

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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."