Varaico: Literature-Extracted Genetic Variants

Gene:ACP5
Variant:p.N262H
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ACP5

NM_001611.5:p.N262H

Associated Papers

Characterisation of ACP5 missense mutations encoding tartrate-resistant acid phosphatase associated with spondyloenchondrodysplasia.

Ramesh J et al.

Plos One, 2020

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

Lausch E et al.

Nature Genetics, 2011

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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."