Varaico: Literature-Extracted Genetic Variants

Gene:ACP4
Variant:p.Q117R
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ACP4

NM_033068.3:p.Q117R

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

Recessive Mutations in ACP4 Cause Amelogenesis Imperfecta.

Kim YJ et al.

Journal of Dental Research, 2022

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