Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.G185V
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MECP2

NM_004992.4:p.G185V

Associated Papers

Identification of a de novo mutation of the FOXG1 gene and comprehensive analysis for molecular factors in Chinese FOXG1-related encephalopathies.

Lu G et al.

Frontiers in Molecular Neuroscience, 2022

Suppressor mutations in Mecp2-null mice implicate the DNA damage response in Rett syndrome pathology.

Enikanolaiye A et al.

Genome Research, 2020

32317254 (PubMed )
Supplement: supp_gr.258400.119_Supplemental_Table_S1_.xlsx › M_199LL

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

MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability.

Bianciardi L et al.

Journal of Human 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."