Varaico: Literature-Extracted Genetic Variants

Gene:ACP5
Variant:p.Y278del1
Back to variants list

ACP5

NM_001611.5:p.Y278del1

Associated Papers

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

Hong SM et al.

Frontiers in Pediatrics, 2022

Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity.

Lausch E et al.

Nature Genetics, 2011

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."