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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CDH2

Variant:p.P313S

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CDH2

NM_001792.5:p.P313S

hg38:chr18:28003080 G>A

Associated Papers

De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females.

Webster R et al.

Clinical Genetics, 2017

27568816 (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."