Varaico: Literature-Extracted Genetic Variants

Gene:PPP2R5D
Variant:p.Q45L
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PPP2R5D

NM_006245.4:p.Q45L

Associated Papers

A Novel Missense Variant in the Gene PPP2R5D Causes a Rare Neurodevelopmental Disorder with Increased Phenotype.

Yan L et al.

Biomed Research International, 2021

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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."