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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DIAPH1

Variant:p.E1192delFs

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DIAPH1

NM_005219.5:p.E1192delFs

hg38:chr5:141524227 CCT>C

Associated Papers

Diagnostic yield of genetic testing in adults with sensorineural hearing loss.

Reda Del Barrio S et al.

Acta Otorrinolaringologica Espanola, 0

38346493 (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."