Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.K144*
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MECP2

NM_004992.4:p.K144*

Associated Papers

Analysis of X-inactivation status in a Rett syndrome natural history study cohort.

Fang X et al.

Molecular Genetics & Genomic Medicine, 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_333R

Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms.

Zahorakova D et al.

Journal of Human Genetics, 2007

A case of Rett syndrome from Ukraine--clinical diagnosis confirmed by mutation analysis of the MECP2 gene.

Bzduch V et al.

Bratislavske Lekarske Listy, 2004

[Analysis of the most frequent mutations in girls with Rett syndrome].

Rosipal R et al.

Casopis Lekaru Ceskych, 2001

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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."