Varaico: Literature-Extracted Genetic Variants

Gene:CPLANE1
Variant:p.R2493Q
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CPLANE1

NM_001384732.1:p.R2493Q

Associated Papers

Nonsense-associated altered splicing of MAP3K1 in two siblings with 46,XY disorders of sex development.

Igarashi M et al.

Scientific Reports, 2020

33060765 (PubMed )
Supplement: 41598_2020_74405_MOESM1_ESM.pdf

Genomic profile analysis of diffuse-type gastric cancers.

Lee YS et al.

Genome Biology, 2014

24690483 (PubMed )
Supplement: gb-2014-15-4-r55-S2.xlsx › Additional_file_2
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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."