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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MECP2

Variant:p.S134insFs

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MECP2

NM_004992.4:p.S134insFs

hg38:chrX:154031427 G>GA

Associated Papers

Rett Syndrome: Specific MECP2 Variants are Associated With Elevated Serum Neurofilament Light Chain.

Hirn E et al.

Pediatric Neurology, 2025

40845725 (PubMed )

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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."