Varaico: Literature-Extracted Genetic Variants

Gene:SDHD
Variant:p.H102P
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SDHD

NM_003002.4:p.H102P

Associated Papers

Targeted metabolomics detects a putatively diagnostic signature in plasma and dried blood spots from head and neck paraganglioma patients.

De Fabritiis S et al.

Oncogenesis, 2023

36841802 (PubMed )
Supplement: 41389_2023_456_MOESM1_ESM.pdf

Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.

Garrett A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022

34906457 (PubMed )
Supplement: mmc1.xlsx › SupTable2_Variant_Counts

Tumor multifocality with vagus nerve involvement as a phenotypic marker of SDHD mutation in patients with head and neck paragangliomas: A 18 F-FDOPA PET/CT study.

Amodru V et al.

Head & Neck, 2019

Risk assessment of maternally inherited SDHD paraganglioma and phaeochromocytoma.

Burnichon N et al.

Journal of Medical Genetics, 2017

The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.

Burnichon N et al.

The Journal of Clinical Endocrinology and Metabolism, 2009

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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."