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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACP5

Variant:p.M264V

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ACP5

NM_001611.5:p.M264V

hg38:chr19:11575198 T>C

Associated Papers

Novel Mutations in ACP5 and SAMHD1 in a Patient With Pediatric Systemic Lupus Erythematosus.

Hong SM et al.

Frontiers in Pediatrics, 2022

35633950 (PubMed )

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.

Briggs TA et al.

Journal of Clinical Immunology, 2016

26951490 (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."