Varaico: Literature-Extracted Genetic Variants

Gene:NUMB
Variant:p.A388insFs
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NUMB

NM_001005743.2:p.A388insFs

Associated Papers

Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy.

Bertrand RE et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

Carss KJ et al.

American Journal of Human Genetics, 2017

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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."