Varaico: Literature-Extracted Genetic Variants

Gene:CCBE1
Variant:p.T144M
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CCBE1

NM_133459.4:p.T144M

Associated Papers

Germline variants in UNC13D and AP3B1 are enriched in COVID-19 patients experiencing severe cytokine storms.

Luo H et al.

European Journal of Human Genetics : Ejhg, 2021

33867526 (PubMed )
Supplement: 41431_2021_886_MOESM2_ESM.xlsx › TableS4

Predicting the Most Deleterious Missense Nonsynonymous Single-Nucleotide Polymorphisms of Hennekam Syndrome-Causing CCBE1 Gene, In Silico Analysis.

Shinwari K et al.

Thescientificworldjournal, 2021

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