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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NUP205

Variant:p.L439R

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NUP205

NM_015135.3:p.L439R

hg38:chr7:135587672 T>G

Associated Papers

TBC1D8B Mutations Implicate RAB11-Dependent Vesicular Trafficking in the Pathogenesis of Nephrotic Syndrome.

Kampf LL et al.

Journal of the American Society of Nephrology : Jasn, 2019

31732614 (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."