Varaico: Literature-Extracted Genetic Variants

Gene:AICDA
Variant:p.Y144F
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AICDA

NM_020661.4:p.Y144F

Associated Papers

Clinical implications of experimental analyses of AID function on predictive computational tools: Challenge of missense variants.

Abolhassani H et al.

Clinical Genetics, 2020

Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.

Qin Z et al.

Frontiers in Genetics, 2020

32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_2.XLSX › patient_5

Human primary liver cancer-derived organoid cultures for disease modeling and drug screening.

Broutier L et al.

Nature Medicine, 2017

29131160 (PubMed )
Supplement: NIHMS74480-supplement-Supplementary_Dataset_4.xlsx › S5_CHC-1_coding_SNVs

Activation-induced cytidine deaminase splice variants are defective because of the lack of structural support for the catalytic site.

van Maldegem F et al.

Journal of Immunology (baltimore, Md. : 1950), 2010

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."