Varaico: Literature-Extracted Genetic Variants

Gene:INPP5E
Variant:p.R511Q
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INPP5E

NM_001318502.2:p.R511Q

Associated Papers

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

The genetic landscape of inherited retinal dystrophies in Arabs.

Jaffal L et al.

Bmc Medical Genomics, 2023

37127645 (PubMed )
Supplement: 12920_2023_1518_MOESM2_ESM.xlsx › Sheet1

Clinical and Genetic Characteristics of a Cohort with Distal Vaginal Atresia.

Kang J et al.

International Journal of Molecular Sciences, 2022

Mutation spectrum of Joubert syndrome and related disorders among Arabs.

Ben-Salem S et al.

Human Genome Variation, 2014

Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.

Chen J et al.

Investigative Ophthalmology & Visual Science, 2011

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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."