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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CMPK1

Variant:p.E57_K58Splc

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CMPK1

NM_016308.3:p.E57_K58Splc

hg38:chr1:47334117 G>A

Associated Papers

RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa.

Jayasundera T et al.

Archives of Ophthalmology (chicago, Ill. : 1960), 2010

20625056 (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."