A novel homozygous variant of RYR1 p.Ala3072Asp in a neonate with dusty core disease: A new entity with clinicopathological implications
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DOI: 10.1111/neup.12648
Abstract: Dusty core disease (DuCD) is a recently described form of congenital myopathy with clinicopathological implications. The presence of “dusty core fibers” is the defining myopathological feature of DuCD. Most cases have a recessive inheritance and… read more here.
Keywords: novel homozygous; core disease; ryr1; dusty core ... See more keywords
Clinicopathological Implications of ASAP1 Expression in Hepatocellular Carcinoma
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DOI: 10.3389/pore.2022.1610635
Abstract: Background: The expression of ArfGAP with SH3 domain ankyrin repeat and PH domain 1 (ASAP1) is increased in various types of cancer, showing potential as a prognostic marker. The clinicopathological implications of ASAP1 expression in… read more here.
Keywords: hepatocellular carcinoma; clinicopathological implications; implications asap1; expression ... See more keywords