Varaico: Literature-Extracted Genetic Variants

Gene:NEXMIF
Variant:p.S1200fs
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NEXMIF

NM_001008537.3:p.S1200fs

Associated Papers

De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.

de Lange IM et al.

Journal of Medical Genetics, 2016

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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."