Varaico: Literature-Extracted Genetic Variants

Gene:CCDC47
Variant:p.R271*
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CCDC47

NM_020198.3:p.R271*

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

Modeling molecular development of breast cancer in canine mammary tumors.

Graim K et al.

Genome Research, 2021

33361113 (PubMed )
Supplement: supp_gr.256388.119_Supplemental_Table_S4.xlsx › Supplemental_Table_S4

Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.

Morimoto M et al.

American Journal of Human Genetics, 2018

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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."