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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CP

Variant:p.E242K

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CP

NM_000096.4:p.E242K

hg38:chr3:149209268 C>T

Associated Papers

DHDDS Mutation: A Rare Cause of Refractory Epilepsy and Hyperkinetic Movement Disorder.

Mehta S et al.

Journal of Movement Disorders, 2023

36628425 (PubMed )

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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."