SWISSVAR
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1 protein found in SwissVar (4 variants)

with gene/protein name P02753

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)
P02753 RET4_HUMAN retinal dystrophy, iris coloboma, and comedogenic acne syndrome p.Ile59Asn
p.Gly93Asp


P02753 RET4_HUMAN microphthalmia, isolated, with coloboma, 10 p.Ala73Thr
p.Ala75Thr