Varaico: Literature-Extracted Genetic Variants

Gene:SF3B4
Variant:p.N140fs
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SF3B4

NM_005850.5:p.N140fs

Associated Papers

A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome.

Cassina M et al.

European Journal of Human Genetics : Ejhg, 2017

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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."