Varaico: Literature-Extracted Genetic Variants

Gene:RARB
Variant:p.G282S
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RARB

NM_000965.5:p.G282S

Associated Papers

Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.

Caron V et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023

Evaluation of Genetic Testing in a Cohort of Diverse Pediatric Patients in the United States with Congenital Cataracts.

Rossen JL et al.

Genes, 2023

36980880 (PubMed )
Supplement: genes-14-00608-s001.zip › genes-2190704-supplementary.pdf

Clinically available testing options resulting in diagnosis in post-exome clinic at one medical center.

Baker EK et al.

Frontiers in Genetics, 2022

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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."