Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.G46V
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SDS

NM_006843.3:p.G46V

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 › Missense_Variants

Identification and functional analysis of two novel connexin 50 mutations associated with autosome dominant congenital cataracts.

Yu Y et al.

Scientific Reports, 2016

Conformational changes at the tetramerization site of erythroid alpha-spectrin upon binding beta-spectrin: a spin label EPR study.

Antoniou C et al.

Biochemistry, 2008

Functional consequences of mutations in the conserved 'signature sequence' of the ATP-binding-cassette protein MalK.

Schmees G et al.

European Journal of Biochemistry, 1999

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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."