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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NR1D2

Variant:p.Q218K

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NR1D2

NM_005126.5:p.Q218K

hg38:chr3:23962111 C>A

Associated Papers

A COLQ Missense Mutation in Sphynx and Devon Rex Cats with Congenital Myasthenic Syndrome.

Abitbol M et al.

Plos One, 2015

26327126 (PubMed )

Supplement: pone.0137019.s006.xlsx › Feuil1

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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."