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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HGSNAT

Variant:p.E131_F132insFs

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HGSNAT

NM_152419.3:p.E131_F132insFs

hg38:chr8:43158944 A>AG

Associated Papers

Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health.

Mkaouar R et al.

Frontiers in Genetics, 2024

38711914 (PubMed )

Supplement: Table2.DOCX

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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."