Varaico: Literature-Extracted Genetic Variants

Gene:LAS1L
Variant:p.V19M
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LAS1L

NM_031206.7:p.V19M

Associated Papers

Missense Mutation R338W in ARHGEF9 in a Family with X-linked Intellectual Disability with Variable Macrocephaly and Macro-Orchidism.

Long P et al.

Frontiers in Molecular Neuroscience, 2015

De novo Xq11.11 microdeletion including ARHGEF9 in a boy with mental retardation, epilepsy, macrosomia, and dysmorphic features.

Lesca G 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."