misdiagnosis

CIDP With and Without Monoclonal Gammopathy of Undetermined Significance (MGUS): Comparison of Clinical Phenotype, Diagnostic Features, and Treatment Response

Comparative Analysis of CIDP Phenotypes Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP) manifests in various clinical forms, distinguished primarily by the nature

CIDP With and Without Monoclonal Gammopathy of Undetermined Significance (MGUS): Comparison of Clinical Phenotype, Diagnostic Features, and Treatment Response Read Post »

Biallelic Variants in RNU6ATAC Result in a Minor Spliceopathy Characterized by Transcriptome-Wide Minor Intron Retention Events and Short Stature with Variable Multisystem Manifestations

Background on RNU6ATAC and Minor Spliceopathy RNU6ATAC is a crucial component of the spliceosome, the cellular machinery responsible for the

Biallelic Variants in RNU6ATAC Result in a Minor Spliceopathy Characterized by Transcriptome-Wide Minor Intron Retention Events and Short Stature with Variable Multisystem Manifestations Read Post »

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