Varaico: Literature-Extracted Genetic Variants

Gene:NEXMIF
Variant:p.S1200Y
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NEXMIF

NM_001008537.3:p.S1200Y

Associated Papers

Novel NEXMIF gene pathogenic variant in a female patient with refractory epilepsy and intellectual disability.

Wu D et al.

American Journal of Medical Genetics. Part A, 2020

Delineation of the KIAA2022 mutation phenotype: two patients with X-linked intellectual disability and distinctive features.

Kuroda Y et al.

American Journal of Medical Genetics. Part A, 2015

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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."