Varaico: Literature-Extracted Genetic Variants

Gene:CCDC92B
Variant:p.E78*
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CCDC92B

NM_001355573.2:p.E78*

Associated Papers

Exploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yield.

Furukawa S et al.

Journal of Human Genetics, 2024

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