Varaico: Literature-Extracted Genetic Variants

Gene:MSL3
Variant:p.Q281*
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MSL3

NM_078629.4:p.Q281*

Associated Papers

Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.

Brunet T et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation.

Basilicata MF et al.

Nature Genetics, 2018

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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."