Varaico: Literature-Extracted Genetic Variants

Gene:CDC40
Variant:p.F502C
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CDC40

NM_015891.3:p.F502C

Associated Papers

Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease.

Olimpio C et al.

Journal of Neuromuscular Diseases, 2024

Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly.

Chai G et al.

Neuron, 2021

Splicing Control of Pontocerebellar Development.

Paul S et al.

Neuron, 2021

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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."