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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CRYBB2

Variant:p.R160P

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CRYBB2

NM_000496.3:p.R160P

hg38:chr22:25231633 G>C

Associated Papers

Variants of BEST1 and CRYBB2 cause a complex ocular phenotype comprising microphthalmia, microcornea, cataract, and vitelliform macular dystrophy: case report.

Shi J et al.

Bmc Ophthalmology, 2023

37076855 (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."