Associated Papers
Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy.
Vulto-van Silfhout AT et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
40590205 (PubMed )
Supplement: NIHMS2119735-supplement-supplement.docx
Improved diagnostics by exome sequencing following raw data reevaluation by clinical geneticists involved in the medical care of the individuals tested.
Basel-Salmon L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa.
Weisz Hubshman M et al.
Human Molecular Genetics, 2018
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