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Claire Grosgogeat
Internal Medicine Residency · University of Colorado School of Medicine
Credentials: ·
History
Research
ACTN2 mutations cause "Multiple structured Core Disease" (MsCD)
Case report · Acta Neuropathologica · 2019 · 40 citations
Dysregulation of NRAP degradation by KLHL41 contributes to pathophysiology in nemaline myopathy
Human Molecular Genetics · 2019 · 31 citations
Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis
Neurology Genetics · 2019 · 20 citations

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- BH
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- CF
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- CJ
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