Varaico: Literature-Extracted Genetic Variants

Gene:ACP5
Variant:p.R46W
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ACP5

NM_001611.5:p.R46W

Associated Papers

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

Hong SM et al.

Frontiers in Pediatrics, 2022

A Case of Familial Spondyloenchondrodysplasia with Immune Dysregulation Masquerading as Moyamoya Syndrome.

Lee JS et al.

Journal of Clinical Neurology (seoul, Korea), 2019

Craniofacial anomalies associated with spondyloenchondrodysplasia: Two case reports.

Hong SW et al.

Medicine, 2018

Tartrate-Resistant Acid Phosphatase Deficiency in the Predisposition to Systemic Lupus Erythematosus.

An J et al.

Arthritis & Rheumatology (hoboken, N.j.), 2017

Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing.

Bae JS et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016

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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."