Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.K268delFs
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MECP2

NM_001110792.2:p.K268delFs

Associated Papers

Apneic crises: a clue for MECP2 testing in severe neonatal hypotonia-respiratory failure.

Falsaperla R et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2012

Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update.

Philippe C 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."