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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EYA1

Variant:p.I30V

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EYA1

NM_000503.6:p.I30V

hg38:chr8:71354818 T>C

Associated Papers

GJB2: Frequency of the Less Common Variants in a Sample of the Portuguese Population.

Reis CS et al.

Acta Medica Portuguesa, 2021

34032567 (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."