Varaico: Literature-Extracted Genetic Variants

Gene:DLL3
Variant:p.A182A
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DLL3

NM_203486.3:p.A182A

Associated Papers

Performance comparison: exome sequencing as a single test replacing Sanger sequencing.

Fridman H et al.

Molecular Genetics and Genomics : Mgg, 2021

A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village.

Bonafé L et al.

Clinical Genetics, 2003

Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis.

Turnpenny PD et al.

Journal of Medical Genetics, 2003

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