Varaico: Literature-Extracted Genetic Variants

Gene:ADCY2
Variant:p.I80T
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ADCY2

NM_020546.3:p.I80T

Associated Papers

Phenotype-genotype correlations in patients with GNB1 gene variants, including the first three reported Japanese patients to exhibit spastic diplegia, dyskinetic quadriplegia, and infantile spasms.

Endo W et al.

Brain & Development, 2020

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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."