Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.A293A
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MECP2

NM_001110792.2:p.A293A

Associated Papers

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLMS10

MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males).

Maortua H et al.

The Journal of Molecular Diagnostics : Jmd, 2013

Mutation analysis of the coding sequence of the MECP2 gene in infantile autism.

Beyer KS et al.

Human Genetics, 2002

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