Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.L232delFs
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MECP2

NM_001110792.2:p.L232delFs

Associated Papers

DHPLC analysis of the MECP2 gene in Italian Rett patients.

Nicolao P et al.

Human Mutation, 2001

Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations.

Shahbazian MD et al.

Current Opinion in Neurology, 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."