Varaico: Literature-Extracted Genetic Variants

Gene:MMP15
Variant:p.D213G
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MMP15

NM_002428.4:p.D213G

Associated Papers

A bi-allelic missense change c.638A > G in matrix metalloproteinase 15 in a patient with progressive familial intrahepatic cholestasis without cardiac anomalies.

Nampoothiri S et al.

Clinical Genetics, 2023

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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."