RS370715569 CLASP1;CLASP1-AS1;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
Spondyloepiphyseal dysplasia congenita
Microcephaly
Craniosynostosis syndrome
Neurodevelopmental delay
Cardiomyopathy
Short stature
RNU4ATAC-related disorder
RNU4ATAC spectrum disorder
Lowry-Wood syndrome
Roifman syndrome
Roifman syndrome
Spondyloepiphyseal dysplasia congenita
Microcephaly
Craniosynostosis syndrome
Other Variants in CLASP1;CLASP1-AS1;RNU4ATAC