Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.T160R
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MECP2

NM_001110792.2:p.T160R

Associated Papers

Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).

Rivera-Munoz EA et al.

European Journal of Human Genetics : Ejhg, 2025

40913078 (PubMed )
Supplement: NIHMS2114636-supplement-Supplemental_Table_S1.xlsx › Table_S1

Methyl-CpG-binding protein 2 mediates overlapping mechanisms across brain disorders.

Bach S et al.

Scientific Reports, 2020

33335218 (PubMed )
Supplement: 41598_2020_79268_MOESM1_ESM.xlsx › Table_S4

A MECP2 missense mutation within the MBD domain in a Brazilian male with autistic disorder.

Campos M et al.

Brain & Development, 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."