Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2D
Variant:p.L145L
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CDKN2D

NM_001800.4:p.L145L

Associated Papers

[First Spanish case of syndromic intellectual disability with dysmorphic facies, seizures, and distal limb anomalies caused by balletic mutations in the OTUD6B gene].

Sánchez-Soler MJ et al.

Anales De Pediatria, 2020

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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."