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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RPTOR

Variant:p.Q1133K

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RPTOR

NM_020761.3:p.Q1133K

hg38:chr17:80957650 C>A

Associated Papers

Genome-wide association study identifies novel susceptibilities to adult moyamoya disease.

Jeon JP et al.

Journal of Human Genetics, 2023

37365321 (PubMed )

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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."