A Frameshift RBM10 Variant Associated With TARP Syndrome
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DOI: 10.3389/fgene.2022.922048
Abstract: TARP syndrome is a rare X-linked genetic condition caused by mutations in the RBM10 gene. Primary clinical characteristics of TARP syndrome include Talipes equinovarus, Atrial septal defect, Robin sequence and Persistent left superior vena cava.… read more here.
Keywords: frameshift rbm10; tarp syndrome; associated tarp; rbm10 variant ... See more keywords