SWISSVAR
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1 protein found in SwissVar (5 variants)

with gene/protein name P45452

Disclaimer: The query results are intended for research purposes only, not for clinical and diagnostic use.

Accession Entry name Disease Variants 3D mapping
(variant position)
P45452 MMP13_HUMAN spondyloepimetaphyseal dysplasia missouri type p.Phe75Ser

P45452 MMP13_HUMAN metaphyseal anadysplasia 1 p.Phe74Ser
p.Met91Thr
p.His232Asn



P45452 MMP13_HUMAN metaphyseal dysplasia, spahr type p.Trp207Gly