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To report novel BEST1 variants in six Chinese families with bestrophinopathies of two different inheritance modes and analyze the intrafamilial phenotypic diversity. Click to show full abstract
To report novel BEST1 variants in six Chinese families with bestrophinopathies of two different inheritance modes and analyze the intrafamilial phenotypic diversity.
Keywords:
novel mutation;
mutation causes;
best1 novel;
diversity;
phenotypic diversity;
causes bestrophinopathies
Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2022
Link to full text (if available)
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Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2022
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!