Varaico: Literature-Extracted Genetic Variants

Gene:SDHC
Variant:p.L135_M136Splc
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SDHC

NM_003001.5:p.L135_M136Splc

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

Tumor detection rates in screening of individuals with SDHx-related hereditary paraganglioma-pheochromocytoma syndrome.

Greenberg SE et al.

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

32741965 (PubMed )
Supplement: NIHMS1619684-supplement-Supplemental_Tables_S1-S3.xlsx › Table_S3

Carney triad, SDH-deficient tumors, and Sdhb+/- mice share abnormal mitochondria.

Szarek E et al.

Endocrine-related Cancer, 2015

The clinical phenotype of SDHC-associated hereditary paraganglioma syndrome (PGL3).

Else T et al.

The Journal of Clinical Endocrinology and Metabolism, 2014

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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."