Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.Q256H
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BEST1

NM_004183.4:p.Q256H

Associated Papers

Genetic dissection of non-syndromic retinitis pigmentosa.

Bhardwaj A et al.

Indian Journal of Ophthalmology, 2022

Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.

Cremers FPM et al.

Progress in Retinal and Eye Research, 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."