Varaico: Literature-Extracted Genetic Variants

Gene:PPP2R5D
Variant:p.W207fs
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PPP2R5D

NM_006245.4:p.W207fs

Associated Papers

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

39201832 (PubMed )
Supplement: children-11-00897-s001.zip › Supplementary_Table_S1.xlsx › Sheet1
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