Varaico: Literature-Extracted Genetic Variants

Gene:PPFIA1
Variant:p.L330F
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PPFIA1

NM_003626.5:p.L330F

Associated Papers

The liprin-α/RIM complex regulates the dynamic assembly of presynaptic active zones via liquid-liquid phase separation.

Jin G et al.

Plos Biology, 2025

Identification of Neurotransmission and Synaptic Biological Processes Disrupted in Autism Spectrum Disorder Using Interaction Networks and Community Detection Analysis.

Vilela J et al.

Biomedicines, 2023

38001974 (PubMed )
Supplement: biomedicines-11-02971-s001.zip › Supplementary_Table_S5.xlsx › S5
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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."