Varaico: Literature-Extracted Genetic Variants

Gene:CEP78
Variant:p.M301V
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CEP78

NM_001330691.3:p.M301V

Associated Papers

Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing.

Thiffault I et al.

Cold Spring Harbor Molecular Case Studies, 2020

32358097 (PubMed )
Supplement: supp_mcs.a003970_Supplemental_Table.xlsx › Variants_in_OMIM

Family-based exome sequencing and case-control analysis implicate CEP41 as an ASD gene.

Patowary A et al.

Translational Psychiatry, 2019

30664616 (PubMed )
Supplement: 41398_2018_343_MOESM3_ESM.xlsx › All_Variants
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