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Elicia A. Estrella on Muck Rack

Elicia A. Estrella

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Articles

Dominant stop‐loss HNRNPA1 variants in juvenile‐onset myopathy

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By Johnnie Turner, Christine C. Bruels, Audrey Daugherty, Elicia A. Estrella
| Wiley Online Library Verified
ACMG-AMP American College of Medical Genetics and Genomics–Association for Molecular Pathology ALS amyotrophic lateral sclerosis ATPase adenosine triphosphatase CADD combined annotation-dependent depletion DNA deoxyribonucleic acid EMG electromyography H&E hematoxylin and eosin hnRNPA1 heterogeneous nuclear ribonucleoprotein A1 IRB Institutional Review Board KD knockdown MSP multisystem proteinopathy NRES National Research Ethics Service RBP RNA-binding protein RRM RNA recognition motif WES...
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