Varaico: Literature-Extracted Genetic Variants

Gene:GPSM2
Variant:p.S501fs
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GPSM2

NM_013296.5:p.S501fs

Associated Papers

Chudley-McCullough Syndrome: A Recognizable Clinical Entity Characterized by Deafness and Typical Brain Malformations.

Blauen A et al.

Journal of Child Neurology, 2021

Genetic heterogeneity of polymicrogyria: study of 123 patients using deep sequencing.

Stutterd CA et al.

Brain Communications, 2021

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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."