Varaico: Literature-Extracted Genetic Variants

Gene:EHMT1
Variant:p.Y1061fs
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EHMT1

NM_024757.5:p.Y1061fs

Associated Papers

Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling.

Frega M et al.

Nature Communications, 2019

Update on Kleefstra Syndrome.

Willemsen MH et al.

Molecular Syndromology, 2012

Kleefstra syndrome in three adult patients: further delineation of the behavioral and neurological phenotype shows aspects of a neurodegenerative course.

Verhoeven WM et al.

American Journal of Medical Genetics. Part A, 2011

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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."