Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.M1L
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SDS

NM_006843.3:p.M1L

Associated Papers

Variants in the first methionine of RAD51C are homologous recombination proficient due to an alternative start site.

Rein HL et al.

Dna Repair, 2024

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

Accumulation of multiple neurodegenerative disease-related proteins in familial frontotemporal lobar degeneration associated with granulin mutation.

Hosokawa M et al.

Scientific Reports, 2017

Varicella-zoster virus ORF49 functions in the efficient production of progeny virus through its interaction with essential tegument protein ORF44.

Sadaoka T et al.

Journal of Virology, 2014

Prenatal diagnosis of respiratory chain deficiency by direct mutation screening.

Amiel J et al.

Prenatal Diagnosis, 2001

The C-terminal sequence of the lambda holin constitutes a cytoplasmic regulatory domain.

Bläsi U et al.

Journal of Bacteriology, 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."