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A Novel Frameshift Variant in CEP78 Associated With Nonsyndromic Retinitis Pigmentosa, and a Review of CEP78-Related Phenotypes

A novel frameshift variant in CEP78 associated with nonsyndromic retinitis pigmentosa, and a review of CEP78-related phenotypes

Authors: Lähteenoja L, Häkli S, Tuupanen S, Kuismin O, Palosaari T, Rahikkala E, Falck A.

Ophthalmic Genet. 2022 Mar 3:1-7. doi: 10.1080/13816810.2022.2045511. Online ahead of print.

Disclaimer: One or more of the authors of this publication were employed at the time by BluePrint Genetics, a subsidiary of Quest Diagnostics.

Specialties: Genetics

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