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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:APBA1

Variant:p.E156_E159delFs

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APBA1

NM_001163.4:p.E156_E159delFs

hg38:chr9:69516731 GGCTTCCTCGT>G

Associated Papers

Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent.

Carmona-Rivera C et al.

The Journal of Investigative Dermatology, 2011

21833017 (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."