Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.V337_T339delFs
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MECP2

NM_001110792.2:p.V337_T339delFs

Associated Papers

The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.

Vidal S et al.

Scientific Reports, 2017

28947817 (PubMed )
Supplement: 41598_2017_11620_MOESM1_ESM.pdf

Updating the profile of C-terminal MECP2 deletions in Rett syndrome.

Bebbington A et al.

Journal of Medical Genetics, 2010

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