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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AP3D1

Variant:p.Q302_L303Splc

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AP3D1

NM_001261826.3:p.Q302_L303Splc

hg38:chr19:2123821 G>A

Associated Papers

Hermansky-Pudlak syndrome type 2: A rare cause of severe periodontitis in adolescents-A case study.

Chen J et al.

Frontiers in Pediatrics, 2022

35928686 (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."