Varaico: Literature-Extracted Genetic Variants

Gene:CEP85L
Variant:p.D78Y
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CEP85L

NM_001042475.3:p.D78Y

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

Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.

Komatsu K et al.

Scientific Reports, 2024

39433808 (PubMed )
Supplement: 41598_2024_75020_MOESM2_ESM.xlsx › Supplementary_Table_S1
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