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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PAX3

Variant:p.F294fs

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PAX3

NM_181458.4:p.F294fs

hg38:chr2:222221300 GAA>N

Associated Papers

Full etiologic spectrum of pediatric severe to profound hearing loss of consecutive 119 cases.

Kim YS et al.

Scientific Reports, 2022

35853923 (PubMed )

Supplement: 41598_2022_16421_MOESM1_ESM.pdf

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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."