Varaico: Literature-Extracted Genetic Variants

Gene:PCBD1
Variant:p.E11delFs
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PCBD1

NM_000281.4:p.E11delFs

Associated Papers

Clinical, Genetic, Morphological and Functional Correlations in a Large Series of Patients with Primary Ciliary Dyskinesia: A Heterogeneous Disease with a Controversial Diagnosis.

Carretero-Vilarroig L et al.

Molecular Diagnosis & Therapy, 2025

40742517 (PubMed )
Supplement: 40291_2025_801_MOESM7_ESM.docx
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."