Varaico: Literature-Extracted Genetic Variants

Gene:KIAA0319
Variant:p.E417K
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KIAA0319

NM_014809.4:p.E417K

Associated Papers

Clinical and genetic characteristics of Chinese patients with congenital fibrosis of the extraocular muscles.

Wu J et al.

Orphanet Journal of Rare Diseases, 2024

Linkage disequilibrium between polymorphisms of ABCB1 and ABCC2 to predict the treatment outcome of Malaysians with complex partial seizures on treatment with carbamazepine mono-therapy at the Kuala Lumpur Hospital.

Subenthiran S et al.

Plos One, 2013

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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."