Varaico: Literature-Extracted Genetic Variants

Gene:ACP5
Variant:p.Q223*
Back to variants list

ACP5

NM_001611.5:p.Q223*

Associated Papers

Spondyloenchondrodysplasia: An enigmatic immuno-osseus type I interferonopathy.

Wong CCY et al.

Journal of Human Immunity, 2025

Childhood-onset autoimmune cytopenia as the presenting feature of biallelic ACP5 mutations.

Sacri AS et al.

Pediatric Blood & Cancer, 2017

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.

Briggs TA et al.

Journal of Clinical Immunology, 2016

Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature.

Briggs TA 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."