Varaico: Literature-Extracted Genetic Variants

Gene:PPP1R3F
Variant:p.P106L
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PPP1R3F

NM_033215.5:p.P106L

Associated Papers

Genetic diagnostic outcomes from a 10-year research programme in autism in Aotearoa New Zealand.

Musgrave SM et al.

Journal of the Royal Society of New Zealand, 2025

40756852 (PubMed )
Supplement: TNZR_A_2394128_SM9470.xlsx › Sheet1

Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.

Liu Z et al.

Human Molecular Genetics, 2023

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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."