Associated Papers
Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosa.
Whiting KR et al.
European Journal of Human Genetics : Ejhg, 2024
38806661 (PubMed )
Supplement: 41431_2024_1627_MOESM2_ESM.xlsx › Sheet1
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.
Bielas SL et al.
Nature Genetics, 2009
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