Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.S164I
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MECP2

NM_004992.4:p.S164I

Associated Papers

MeCP2 AT-Hook1 mutations in patients with intellectual disability and/or schizophrenia disrupt DNA binding and chromatin compaction in vitro.

Sheikh TI et al.

Human Mutation, 2018

Asperger syndrome and early-onset schizophrenia associated with a novel MECP2 deleterious missense variant.

Curie A et al.

Psychiatric Genetics, 2017

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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."