Varaico: Literature-Extracted Genetic Variants

Gene:ACP2
Variant:p.M25I
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ACP2

NM_001610.4:p.M25I

Associated Papers

Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report of a four-generation pedigree, identification of a mutation in TGFB1, and review.

Wallace SE et al.

American Journal of Medical Genetics. Part A, 2004

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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."