Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.W221C
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NF1

NM_001042492.3:p.W221C

Associated Papers

De novo KAT6B Mutation Identified with Whole-Exome Sequencing in a Girl with Say-Barber/Biesecker/Young-Simpson Syndrome.

Lundsgaard M et al.

Molecular Syndromology, 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."