Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.A143V
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MECP2

NM_001110792.2:p.A143V

Associated Papers

Generation of human induced pluripotent stem cell lines derived from four Rett syndrome patients with MECP2 mutations.

Mori M et al.

Stem Cell Research, 2024

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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."