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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MECP2

Variant:p.S146T

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MECP2

NM_001110792.2:p.S146T

hg38:chrX:154031428 A>T

Associated Papers

Loss of O-GlcNAcylation on MeCP2 at Threonine 203 Leads to Neurodevelopmental Disorders.

Cheng J et al.

Neuroscience Bulletin, 2022

34773221 (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."