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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NUP214

Variant:p.K79T

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NUP214

NM_005085.4:p.K79T

hg38:chr9:131127714 A>C

Associated Papers

Characteristics and outcomes of patients with formiminoglutamic aciduria detected through newborn screening.

Ahrens-Nicklas RC et al.

Journal of Inherited Metabolic Disease, 2019

30740726 (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."