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1 protein found in SwissVar (4 variants)

with gene/protein name Q9NR23

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)
Q9NR23 GDF3_HUMAN klippel-feil syndrome 3, autosomal dominant p.Arg266Cys

Q9NR23 GDF3_HUMAN microphthalmia, isolated, with coloboma, 6 p.Arg266Cys

Q9NR23 GDF3_HUMAN microphthalmia, isolated, 7 p.Arg195Gln