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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:USH2A

Variant:p.C3251Y

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USH2A

NM_206933.4:p.C3251Y

hg38:chr1:215799113 C>T

Associated Papers

Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report.

Young SL et al.

Bmc Ophthalmology, 2022

35346118 (PubMed )

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