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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MECP2

Variant:p.E294delFs

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MECP2

NM_001110792.2:p.E294delFs

hg38:chrX:154030983 TC>T

Associated Papers

Metabolic Signatures Differentiate Rett Syndrome From Unaffected Siblings.

Neul JL et al.

Frontiers in Integrative Neuroscience, 2020

32161522 (PubMed )

Supplement: Table_1.XLSX › 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."