Varaico: Literature-Extracted Genetic Variants

Gene:SDHC
Variant:p.L166V
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SDHC

NM_003001.5:p.L166V

Associated Papers

Genotype-phenotype associations in PPGLs in 59 patients with variants in SDHX genes.

Main AM et al.

Endocrine Connections, 2020

Molecular mechanism of mitochondrial respiratory chain assembly and its relation to mitochondrial diseases.

Mukherjee S et al.

Mitochondrion, 2020

Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients.

Bennedbæk M et al.

Hereditary Cancer in Clinical Practice, 2016

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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."