Varaico: Literature-Extracted Genetic Variants

Gene:SDHA
Variant:p.L562L
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SDHA

NM_004168.4:p.L562L

Associated Papers

Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum.

Sturrock BRH et al.

Molecular Genetics & Genomic Medicine, 2021

Phenotypic dichotomy in mitochondrial complex II genetic disorders.

Baysal BE et al.

Journal of Molecular Medicine (berlin, Germany), 2001

Survey of human mitochondrial diseases using new genomic/proteomic tools.

Plasterer TN et al.

Genome Biology, 2001

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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."