Varaico: Literature-Extracted Genetic Variants

Gene:CRB2
Variant:p.R1252H
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CRB2

NM_173689.7:p.R1252H

Associated Papers

Six new cases of CRB2-related syndrome and a review of clinical findings in 28 reported patients.

Adutwum M et al.

Clinical Genetics, 2023

Uptake of next-generation sequencing in children with end-stage renal disease secondary to focal segmental glomerulosclerosis and parental decision for kidney transplantation-Experience from a low resource setting: A Retrospective Cohort Study.

Sinha R et al.

Pediatric Transplantation, 2021

Mutations in the Glycosyltransferase Domain of GLT8D1 Are Associated with Familial Amyotrophic Lateral Sclerosis.

Cooper-Knock J et al.

Cell Reports, 2019

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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."