Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.A83insFs
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MECP2

NM_001110792.2:p.A83insFs

Associated Papers

Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing.

Wu R et al.

Orphanet Journal of Rare Diseases, 2024

38764027 (PubMed )
Supplement: 13023_2024_3214_MOESM1_ESM.xls › Sheet1
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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."