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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BEST1

Variant:p.H223_L224del1

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BEST1

NM_004183.4:p.H223_L224del1

hg38:chr11:61957416 ACAC>A

Associated Papers

Autosomal recessive bestrinopathy mimicking juvenile retinoschisis.

Rao B S S et al.

Eye (london, England), 2025

39304741 (PubMed )

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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."