Varaico: Literature-Extracted Genetic Variants

Gene:PPP2R5C
Variant:p.H133R
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PPP2R5C

NM_178587.3:p.H133R

Associated Papers

Houge-Janssens syndrome.

Houge GD et al.

European Journal of Human Genetics : Ejhg, 2025

Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum.

Verbinnen I et al.

American Journal of Human Genetics, 2025

High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders.

Spataro N et al.

Genes, 2023

36980980 (PubMed )
Supplement: genes-14-00708-s001.zip › TableS4.xls › Sheet1
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