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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AP3D1

Variant:p.V549I

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AP3D1

NM_001261826.3:p.V549I

hg38:chr19:2118669 C>T

Associated Papers

A New EP300 -Related Syndrome With Prominent Developmental and Immune Phenotypes.

Maripuri DP et al.

American Journal of Medical Genetics. Part A, 2025

40167301 (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."