Varaico: Literature-Extracted Genetic Variants

Gene:OTX2
Variant:p.P162delFs
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OTX2

NM_021728.4:p.P162delFs

Associated Papers

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

Heterozygous mutation in OTX2 associated with early-onset retinal dystrophy with atypical maculopathy.

Abdalla-Elsayed ME et al.

Molecular Vision, 2017

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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."