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ENRetinitis Pigmentosa 54 (RP54)
Alias:
Rp54
Cone-Rod Dystrophy 23
Retinitis Pigmentosa, Type 54
Cord23
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Retinitis Pigmentosa 54, also known as rp54, is related to retinitis pigmentosa 42 and pigmented paravenous chorioretinal atrophy. An important gene associated with Retinitis Pigmentosa 54 is PCARE (Photoreceptor Cilium Actin Regulator), and among its related pathways/superpathways are Ciliary landscape and Ciliopathies. Affiliated tissues include retina and bone, and related phenotypes are visual impairment and abnormal electroretinogram
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