Varaico: Literature-Extracted Genetic Variants

Gene:ANK3
Variant:p.E3253V
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ANK3

NM_020987.5:p.E3253V

Associated Papers

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLMS03_het

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.

Martin HC et al.

Human Molecular Genetics, 2014

24463883 (PubMed )
Supplement: supp_ddu030_ddu030supp.doc
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