RS559979281 RNU4ATAC
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What This Variant Does
"A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in ...
Associated Conditions
Roifman syndrome
Osteodysplastic primordial dwarfism
type 1
Lowry-Wood syndrome
CLASP1-related disorder
RNU4ATAC spectrum disorder
Roifman syndrome
Roifman syndrome
Osteodysplastic primordial dwarfism
type 1
Lowry-Wood syndrome
CLASP1-related disorder
RNU4ATAC spectrum disorder
Roifman syndrome
Other Variants in RNU4ATAC