Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1B
Variant:p.R477C
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CACNA1B

NM_000718.4:p.R477C

Associated Papers

Human D-Lactate Dehydrogenase Deficiency: A Case Report in a Young Boy.

Sloth TB et al.

Jimd Reports, 2025

Human d-lactate dehydrogenase deficiency by LDHD mutation in a patient with neurological manifestations and mitochondrial complex IV deficiency.

Kwong AK et al.

Jimd Reports, 2021

Identification of human D lactate dehydrogenase deficiency.

Monroe GR et al.

Nature Communications, 2019

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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."