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Genetic Variants in Filaggrin: Insights into European and Asian Mutations

This study explores various genetic variants of the filaggrin gene, focusing on notable mutations such as .2282del4, R501X, and others linked to skin conditions like eczema. We detail both European and Asian variants, including R2447X and S2554X, and highlight repeated sequences and partial filaggrin repeats. By analyzing these mutations, this research enhances understanding of their implications for dermatological disorders and genetic diversity across populations. This comprehensive overview provides a valuable resource for geneticists and dermatologists alike.

cynthia-strong
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Genetic Variants in Filaggrin: Insights into European and Asian Mutations

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  1. 2282del4 10 repeats R501X R2447X 11 repeats S100-like domain S2554X S2889X S3247X R4307X B domain 12 repeats Partial filaggrin repeat Filaggrin repeat 3’ UTR A 2282del4 3673delC 5360delG 7267delCA 11029delCA 3702delG 6867delAG R2447X 11033del4 European variants R501X R1474X S3247X Q3683X Asian variants 441delA 1249insG S2554X S2889X S3296X 3321delA E2422X 7945delA R4307X B

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