Varaico: Literature-Extracted Genetic Variants

Gene:CCDC78
Variant:p.R96Q
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CCDC78

NM_001378030.1:p.R96Q

Associated Papers

High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.

Hiz Kurul S et al.

Brain : a Journal of Neurology, 2022

34791078 (PubMed )
Supplement: awab395_supplementary_data.zip › brain-2021-01013-File007.pdf
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