Varaico: Literature-Extracted Genetic Variants

Gene:BBS1
Variant:p.A19T
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BBS1

NM_024649.5:p.A19T

Associated Papers

A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium.

Jespersgaard C et al.

Investigative Ophthalmology & Visual Science, 2020

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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."