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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CD19

Variant:p.A485P

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CD19

NM_001770.6:p.A485P

hg38:chr16:28937792 G>C

Associated Papers

Revisiting TOP2B-related phenotypes: Three new cases and literature review.

Çepni E et al.

Clinical Genetics, 2023

37068767 (PubMed )

Inherited TOP2B Mutation: Possible Confirmation of Mutational Hotspots in the TOPRIM Domain.

Erdős M et al.

Journal of Clinical Immunology, 2021

33459963 (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."