686P Identification and characterization of actionable deep intron 8 IGHMBP2 hotspot pathogenic variants through motor neuron RNAseq and whole genome
Shana Silverstein(Rutgers, The State University of New Jersey), Carsten G. Bönnemann(National Institute of Neurological Disorders and Stroke), Diana Bharucha‐Goebel(National Institutes of Health), Sarah Neuhaus(National Institutes of Health), Sandra Donkervoort(Government of the United States of America), Francesco Vetrini(Indiana University – Purdue University Indianapolis), Aparna G. Patankar(National Institutes of Health), C. Grunseich(National Institutes of Health), Katherine R. Chao(Broad Institute), Erin Conboy(Indiana University – Purdue University Indianapolis), Thomas Cassini(Vanderbilt University Medical Center), Khurram Liaqat(Indiana University School of Medicine), A. Reghan Foley(National Institutes of Health), Kayla Treat(Indiana University – Purdue University Indianapolis), Allen R. Comer(Indiana University School of Medicine), Lili Mantcheva(Indiana University School of Medicine)
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