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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NDUFA5

Variant:p.P20L

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NDUFA5

NM_005000.5:p.P20L

hg38:chr7:123557411 G>A

Associated Papers

Mapping, genomic structure, and polymorphisms of the human GABABR1 receptor gene: evaluation of its involvement in idiopathic generalized epilepsy.

Peters HC et al.

Neurogenetics, 1998

9933300 (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."