Varaico: Literature-Extracted Genetic Variants

Gene:CCDC47
Variant:p.R412*
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CCDC47

NM_020198.3:p.R412*

Associated Papers

Virtual Gene Panels Have a Superior Diagnostic Yield for Inherited Rare Diseases Relative to Static Panels.

Sheikh Hassani M et al.

Clinical Chemistry, 2025

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

Case report: A cyclic neutropenia patient with ELANE mutation accompanied by hemophagocytic lymphohistiocytosis.

Yu L et al.

Frontiers in Immunology, 2024

39676859 (PubMed )
Supplement: Table1.docx
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