Varaico: Literature-Extracted Genetic Variants

Gene:INPP5E
Variant:p.D556E
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INPP5E

NM_019892.6:p.D556E

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

Potential Involvements of Cilia-Centrosomal Genes in Primary Congenital Glaucoma.

Pyatla G et al.

International Journal of Molecular Sciences, 2024

39337513 (PubMed )
Supplement: ijms-25-10028-s001.zip › Copy_of_Revised_Table_S4_INPP5E_reported_phenotypes.xlsx › Sheet1

Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.

Wang H et al.

Investigative Ophthalmology & Visual Science, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."