Varaico: Literature-Extracted Genetic Variants

Gene:CRB1
Variant:p.C1154S
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CRB1

NM_201253.3:p.C1154S

Associated Papers

A novel nonsense variant (c.1499C>G) in CRB1 caused Leber congenital amaurosis-8 in a Chinese family and a literature review.

Duan W et al.

Bmc Medical Genomics, 2022

Identification of CRB1 mutations in two Chinese consanguineous families exhibiting autosomal recessive retinitis pigmentosa.

Guo X et al.

Molecular Medicine Reports, 2019

Novel mutations in CRB1 gene identified in a chinese pedigree with retinitis pigmentosa by targeted capture and next generation sequencing.

Lu L et al.

Oncotarget, 2016

Novel mutations of CRB1 in Chinese families presenting with retinal dystrophies.

Yang L et al.

Molecular Vision, 2014

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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."