Varaico: Literature-Extracted Genetic Variants

Gene:CRB2
Variant:p.W759*
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CRB2

NM_173689.7:p.W759*

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

Diagnostic application of exome sequencing in Chinese children with suspected inherited kidney diseases.

Gao M et al.

Frontiers in Genetics, 2022

Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development.

Yates CL et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

Altered expression of Crb2 in podocytes expands a variation of CRB2 mutations in steroid-resistant nephrotic syndrome.

Udagawa T et al.

Pediatric Nephrology (berlin, Germany), 2017

Expansion of phenotype and genotypic data in CRB2-related syndrome.

Lamont RE et al.

European Journal of Human Genetics : Ejhg, 2016

CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein.

Slavotinek A et al.

American Journal of Human Genetics, 2015

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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."