Bi-allelic variants in the non-protein-coding minor spliceosome components RNU6ATAC and RNU4ATAC cause syndromic monogenic autoimmune diabetes.

IF 7.7 1区生物学 Q1 GENETICS & HEREDITY

American journal of human genetics Pub Date : 2026-08-06 Epub Date: 2026-07-14 DOI:10.1016/j.ajhg.2026.07.003

Matthew B Johnson, James Russ-Silsby, Paul A Blair, Molly Govier, Georgia Bonfield, Clara Domingo-Vila, Matthew N Wakeling, Richard A Oram, Sarah E Flanagan, Timothy I M Tree, Kashyap A Patel, Andrew T Hattersley, Elisa De Franco

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非蛋白质编码次要剪接体成分RNU6ATAC和RNU4ATAC的双等位基因变异导致综合征性单基因自身免疫性糖尿病。

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来源期刊

American journal of human genetics 生物-遗传学

CiteScore

14.70

自引率

4.10%

发文量

185

审稿时长

1 months

期刊介绍： The American Journal of Human Genetics (AJHG) is a monthly journal published by Cell Press, chosen by The American Society of Human Genetics (ASHG) as its premier publication starting from January 2008. AJHG represents Cell Press's first society-owned journal, and both ASHG and Cell Press anticipate significant synergies between AJHG content and that of other Cell Press titles.