Varaico: Literature-Extracted Genetic Variants

Gene:CNGB1
Variant:p.S813L
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CNGB1

NM_001297.5:p.S813L

Associated Papers

BILATERAL MACULAR DYSPLASIA IN COFFIN-SIRIS SYNDROME.

Schumaier NP et al.

Retinal Cases & Brief Reports, 2026

Whole Exome Sequencing in Pediatric Neurology Patients: Clinical Implications and Estimated Cost Analysis.

Nolan D et al.

Journal of Child Neurology, 2016

26863999 (PubMed )
Supplement: supplemental_material.pdf
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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."