SWISSVAR
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1 protein found in SwissVar (5 variants)

with gene/protein name P12644

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)
P12644 BMP4_HUMAN microphthalmia, syndromic, 6 p.Glu93Gly

P12644 BMP4_HUMAN non-syndromic orofacial cleft 11 p.Ser91Cys
p.Arg162Gln
p.Arg287His
p.Ala346Val