Varaico: Literature-Extracted Genetic Variants

Gene:SDHD
Variant:p.A137delFs
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SDHD

NM_003002.4:p.A137delFs

Associated Papers

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

Validation of a Next-Generation Sequencing Pipeline for the Molecular Diagnosis of Multiple Inherited Cancer Predisposing Syndromes.

Paulo P et al.

The Journal of Molecular Diagnostics : Jmd, 2017

Utility of the succinate: Fumarate ratio for assessing SDH dysfunction in different tumor types.

Kim E et al.

Molecular Genetics and Metabolism Reports, 2017

28070496 (PubMed )
Supplement: mmc5.xlsx › Sheet1

Identification of three new variants of SDHx genes in a cohort of Portuguese patients with extra-adrenal paragangliomas.

Domingues R et al.

Journal of Endocrinological Investigation, 2012

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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."