Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.P232delFs
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CRX

NM_000554.6:p.P232delFs

Associated Papers

Application of patient-derived induced pluripotent stem cells and organoids in inherited retinal diseases.

Liang Y et al.

Stem Cell Research & Therapy, 2023

Pathogenicity discrimination and genetic test reference for CRX variants based on genotype-phenotype analysis.

Yi Z et al.

Experimental Eye Research, 2019

Generation of a human iPSC line, INMi004-A, with a point mutation in CRX associated with autosomal dominant Leber congenital amaurosis.

Erkilic N et al.

Stem Cell Research, 2019

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Unknown Author

Genome Biology, 2015

26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1
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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."