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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SF3B4

Variant:p.K183Q

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SF3B4

NM_005850.5:p.K183Q

hg38:chr1:149926535 T>G

Associated Papers

Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome.

Czeschik JC et al.

Human Genetics, 2013

23568615 (PubMed )

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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."