Varaico: Literature-Extracted Genetic Variants

Gene:GTF2H2
Variant:p.G288V
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GTF2H2

NM_001515.4:p.G288V

Associated Papers

Dual Mechanism of a New SMN1 Variant (c.835G>C, p.Gly279Arg) by Interrupting Exon 7 Skipping and YG Oligomerization in Causation of Spinal Muscular Atrophy.

Bai J et al.

Journal of Molecular Neuroscience : Mn, 2021

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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."