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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CUL4A

Variant:p.S222C

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CUL4A

NM_001008895.4:p.S222C

hg38:chr13:113233329 C>G

Associated Papers

Biallelic mutations in mitochondrial tryptophanyl-tRNA synthetase cause Levodopa-responsive infantile-onset Parkinsonism.

Burke EA et al.

Clinical Genetics, 2018

29120065 (PubMed )

Supplement: CGE-93-712-s001.docx

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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."