Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.Q238L
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BEST1

NM_004183.4:p.Q238L

Associated Papers

Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy.

Pfister TA et al.

Investigative Ophthalmology & Visual Science, 2021

34015078 (PubMed )
Supplement: iovs-62-6-22_s002.pdf

Ocular phenotype analysis of a family with biallelic mutations in the BEST1 gene.

Sharon D et al.

American Journal of Ophthalmology, 2014

Screening for BEST1 gene mutations in Chinese patients with bestrophinopathy.

Tian R et al.

Molecular Vision, 2014

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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."