Varaico: Literature-Extracted Genetic Variants

Gene:AP3D1
Variant:p.K91_R92Splc
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AP3D1

NM_001261826.3:p.K91_R92Splc

Associated Papers

Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.

Li K et al.

Ebiomedicine, 2024

38113761 (PubMed )
Supplement: mmc2.xlsx › Table_S4

Shared and divergent contribution of vitamin A and oxytocin to the aetiology of autism spectrum disorder.

Wang T et al.

Computational and Structural Biotechnology Journal, 2023

38213898 (PubMed )
Supplement: mmc2.xlsx › DNMs_in_VARGs

Hermansky-Pudlak syndrome: Mutation update.

Huizing M et al.

Human Mutation, 2020

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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."