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並前往https://www.dovepress.com/identification-of-two-novel-dnaaf2-variants-in-two-consanguineous-fami-peer-reviewed-fulltext-article-PGPM

Novel DNAAF2 variants cause primary ciliary dyskinesia | PGPM

2) Preserve variants in coding regions (exonic) or splicing site ... in exons or in canonical splice sites (splicing junction 10 bp).

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