Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.K316E
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MECP2

NM_001110792.2:p.K316E

Associated Papers

MeCP2: The Genetic Driver of Rett Syndrome Epigenetics.

Good KV et al.

Frontiers in Genetics, 2021

Genetic Testing in Various Neurodevelopmental Disorders Which Manifest as Cerebral Palsy: A Case Study From Iran.

Nejabat M et al.

Frontiers in Pediatrics, 2021

The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome.

Schönewolf-Greulich B et al.

Clinical Genetics, 2016

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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."