Varaico: Literature-Extracted Genetic Variants

Gene:ACP4
Variant:p.T143M
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ACP4

NM_033068.3:p.T143M

Associated Papers

Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop's classification.

Bloch-Zupan A et al.

Frontiers in Physiology, 2023

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

Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Cong PK et al.

Nature Communications, 2022

35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2

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

Smith CE et al.

European Journal of Human Genetics : Ejhg, 2017

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