Varaico: Literature-Extracted Genetic Variants

Gene:FARSB
Variant:p.L561F
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FARSB

NM_005687.5:p.L561F

Associated Papers

Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies.

Sheck L et al.

Ophthalmology, 2018

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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."