Varaico: Literature-Extracted Genetic Variants

Gene:MMP13
Variant:p.R109*
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MMP13

NM_002427.4:p.R109*

Associated Papers

Rickets manifestations in a child with metaphyseal anadysplasia, report of a spontaneously resolving case.

Diaz Escagedo P et al.

Bmc Pediatrics, 2021

Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia.

Li D et al.

European Journal of Human Genetics : Ejhg, 2015

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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."