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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MITF

Variant:p.V100delFs

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MITF

NM_001354604.2:p.V100delFs

hg38:chr3:69879327 GTC>G

Associated Papers

Hearing Screening Combined with Target Gene Panel Testing Increased Etiological Diagnostic Yield in Deaf Children.

Xie L et al.

Neural Plasticity, 2021

34335733 (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."