Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.A278A
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MECP2

NM_004992.4:p.A278A

Associated Papers

Clonal evidence for the development of neuroblastoma with extensive copy-neutral loss of heterozygosity arising in a mature teratoma.

Ono R et al.

Cancer Science, 2021

33934450 (PubMed )
Supplement: CAS-112-2921-s001.xlsx › Dataset_S1

MECP2 coding sequence and 3'UTR variation in 172 unrelated autistic patients.

Coutinho AM et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2007

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

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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."