Varaico: Literature-Extracted Genetic Variants

Gene:CCDC47
Variant:p.L141fs
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CCDC47

NM_020198.3:p.L141fs

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

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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."