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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PAX8

Variant:p.S323C

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PAX8

NM_003466.4:p.S323C

hg38:chr2:113235513 G>C

Associated Papers

Genetics of Waardenburg Syndrome in Africa: A Systematic Review.

Aboagye ET et al.

International Journal of Molecular Sciences, 2025

41516007 (PubMed )

Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes.

Wonkam A et al.

Communications Biology, 2022

35440622 (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."