Varaico: Literature-Extracted Genetic Variants

Gene:ACP4
Variant:p.E133K
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ACP4

NM_033068.3:p.E133K

Associated Papers

Enamel defects in Acp4R110C/R110C mice and human ACP4 mutations.

Liang T et al.

Scientific Reports, 2022

36183038 (PubMed )
Supplement: 41598_2022_20684_MOESM1_ESM.pdf

Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta.

Smith CE et al.

European Journal of Human Genetics : Ejhg, 2017

Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta.

Seymen F et al.

American Journal of Human Genetics, 2016

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