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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TMPRSS11A

Variant:p.S174Splc

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TMPRSS11A

NM_001114387.2:p.S174Splc

hg38:chr4:67922927 C>A

Associated Papers

Systematic phenotype and genotype characterization of Moebius syndrome.

Webb BD et al.

Genetics in Medicine Open, 2025

40662098 (PubMed )

Supplement: mmc1.xlsx › Supp_Table_8

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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."