Varaico: Literature-Extracted Genetic Variants

Gene:KIAA0319
Variant:p.E353K
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KIAA0319

NM_014809.4:p.E353K

Associated Papers

Expanding genetic and clinical spectra of β-tubulinopathies: A Korean study.

Hwang S et al.

Journal of Human Genetics, 2026

Novel mutations and structural deletions in TUBB8: expanding mutational and phenotypic spectrum of patients with arrest in oocyte maturation, fertilization or early embryonic development.

Chen B et al.

Human Reproduction (oxford, England), 2017

Scarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposis.

Mur P et al.

Scientific Reports, 2016

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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."