Varaico: Literature-Extracted Genetic Variants

Gene:NUP210
Variant:p.I690M
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NUP210

NM_024923.4:p.I690M

Associated Papers

Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange Syndrome.

Ansari M et al.

Human Mutation, 2025

40677927 (PubMed )
Supplement: 4711663.f2.pdf
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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."