Varaico: Literature-Extracted Genetic Variants

Gene:CRB2
Variant:p.R764*
Back to variants list

CRB2

NM_173689.7:p.R764*

Associated Papers

The Specific Pathogenicity Pattern of the Different CRB1 Isoforms Conditions Clinical Severity in Inherited Retinal Dystrophies.

Siles L et al.

International Journal of Molecular Sciences, 2025

Clinical and Therapeutic Evaluation of the Ten Most Prevalent CRB1 Mutations.

Lopes da Costa B et al.

Biomedicines, 2023

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

Adutwum M et al.

Clinical Genetics, 2023

CRB1-Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor CRB1 Isoforms.

Mairot K et al.

International Journal of Molecular Sciences, 2021

Crumbs homolog 2 mutation in two siblings with steroid-resistant nephrotic syndrome: Two case reports.

Lu J et al.

World Journal of Clinical Cases, 2021

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."