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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NUP214

Variant:p.D154_M155insFs

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NUP214

NM_005085.4:p.D154_M155insFs

hg38:chr9:131129346 A>ATG

Associated Papers

Netherton Syndrome: A Genotype-Phenotype Review.

Sarri CA et al.

Molecular Diagnosis & Therapy, 2017

27905021 (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."