Varaico: Literature-Extracted Genetic Variants

Gene:PPP2R5D
Variant:p.L203P
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PPP2R5D

NM_006245.4:p.L203P

Associated Papers

Houge-Janssens syndrome.

Houge GD et al.

European Journal of Human Genetics : Ejhg, 2025

Thirteen New Patients of PPP2R5D Gene Mutation and the Fine Profile of Genotype-Phenotype Correlation Unraveling the Pathogenic Mechanism Underlying Macrocephaly Phenotype.

Jiang Y et al.

Children (basel, Switzerland), 2024

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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."