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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PPP2R5C

Variant:p.A130del1

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PPP2R5C

NM_178587.3:p.A130del1

hg38:chr14:101882253 AGCC>A

Associated Papers

Houge-Janssens syndrome.

Houge GD et al.

European Journal of Human Genetics : Ejhg, 2025

40555839 (PubMed )

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

39978342 (PubMed )

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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."