Sentences with phrase «recessive frameshift»
We imputed these variants into 104,220 individuals down to a minor allele frequency of 0.1 % and found a recessive frameshift mutation in MYL4 that causes early - onset atrial fibrillation, several mutations in ABCB4 that increase risk of liver diseases and an intronic variant in GNAS associating with increased thyroid - stimulating hormone levels when maternally inherited.
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Recently a frameshift mutation was identified in C2orf71 that causes an autosomal recessive form of late onset PRA in the Gordon and Irish Setters [30].