Varaico: Literature-Extracted Genetic Variants

Gene:TLCD3B
Variant:p.G56S
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TLCD3B

NM_031478.6:p.G56S

Associated Papers

AAV8-Mediated Gene Therapy Rescues Retinal Degeneration Phenotype in a Tlcd3b Knockout Mouse Model.

Qian X et al.

Investigative Ophthalmology & Visual Science, 2022

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

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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."