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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MMP20

Variant:p.Y180C

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MMP20

NM_004771.4:p.Y180C

hg38:chr11:102610015 T>C

Associated Papers

Novel MMP20 (matrix metalloproteinase 20) mutations causing hypoplastic-hypomaturation amelogenesis imperfecta.

Wang SK et al.

Journal of Dental Sciences, 2026

41585151 (PubMed )

Phenotypic variability in LAMA3-associated amelogenesis imperfecta.

Wang SK et al.

Oral Diseases, 2023

36326426 (PubMed )

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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."