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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AUP1

Variant:p.S141T

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AUP1

NM_181575.5:p.S141T

hg38:chr2:74528854 A>T

Associated Papers

A posttranslational modification code for CFTR maturation is altered in cystic fibrosis.

Pankow S et al.

Science Signaling, 2019

30600261 (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."