Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.P165S
Back to variants list

MECP2

NM_004992.4:p.P165S

Associated Papers

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 › S_239L

Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation.

Lesca G et al.

European Journal of Medical Genetics, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."