RS587776596 MFRP
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What This Variant Does
"rs587776596, also known as c.498delC and p.Asn167Thrfs, represents a very rare mutation in the MFRP/...
Associated Conditions
Nanophthalmos 2
Isolated microphthalmia 5
MFRP-related disorder
Retinal dystrophy
Isolated microphthalmia 5
Retinal dystrophy
Nanophthalmos 2
Isolated microphthalmia 5
MFRP-related disorder
Retinal dystrophy
Isolated microphthalmia 5
Retinal dystrophy
Other Variants in MFRP