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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CPLANE1

Variant:p.Q2248_V2249insA

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CPLANE1

NM_001384732.1:p.Q2248_V2249insA

hg38:chr5:37169282 G>GNNN

Associated Papers

Joubert syndrome: genotyping a Northern European patient cohort.

Kroes HY et al.

European Journal of Human Genetics : Ejhg, 2016

25920555 (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."