Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.G249fs
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MECP2

NM_001110792.2:p.G249fs

Associated Papers

Autism Spectrum Disorder and miRNA: An Overview of Experimental Models.

Schepici G et al.

Brain Sciences, 2019

Genetic Analysis of MECP2 Gene in Iranian Patients with Rett Syndrome.

Nasiri J et al.

Iranian Journal of Child Neurology, 2019

Ten novel insertion/deletion variants in MECP2 identified in Japanese patients with Rett syndrome.

Takeshita E et al.

Human Genome Variation, 2019

From somatic variants towards precision oncology: Evidence-driven reporting of treatment options in molecular tumor boards.

Perera-Bel J et al.

Genome Medicine, 2018

29544535 (PubMed )
Supplement: 13073_2018_529_MOESM2_ESM.xlsx › MASTER-07

Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.

Guo H et al.

Molecular Autism, 2018

30564305 (PubMed )
Supplement: 13229_2018_247_MOESM5_ESM.xlsx › LGD
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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."