Varaico: Literature-Extracted Genetic Variants

Gene:CCDC47
Variant:p.N188delFs
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CCDC47

NM_020198.3:p.N188delFs

Associated Papers

CCDC47 gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia.

Alsubeeh NA et al.

American Journal of Medical Genetics. Part A, 2025

Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental Disorders.

Tolezano GC et al.

Molecular Neurobiology, 2024

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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."