Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.P185L
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MECP2

NM_001110792.2:p.P185L

Associated Papers

Clinical, Molecular, and Computational Analysis in Patients With a Novel Double Mutation and a New Synonymous Variant in MeCP2: Report of the First Missense Mutation Within the AT-hook1 Cluster in Rett Syndrome.

Kharrat M et al.

Journal of Child Neurology, 2017

Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation.

Kleefstra T et al.

Journal of Medical Genetics, 2004

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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."