Varaico: Literature-Extracted Genetic Variants

Gene:CHD8
Variant:p.I1292M
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CHD8

NM_001170629.2:p.I1292M

Associated Papers

Generation and characterization of PBMCs-derived human induced pluripotent stem cell (iPSC) line SDQLCHi051-A from an autism spectrum disorder patient with compound CHD8 gene mutations.

Fan Y et al.

Stem Cell Research, 2023

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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."