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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GNAS

Variant:p.R201_E209del9

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GNAS

NM_000516.7:p.R201_E209del9

hg38:chr20:58909364 CCGTGTCCTGACTTCTGGAATCTTTGAG>C

Associated Papers

Germline-Derived Gain-of-Function Variants of Gsα-Coding GNAS Gene Identified in Nephrogenic Syndrome of Inappropriate Antidiuresis.

Miyado M et al.

Journal of the American Society of Nephrology : Jasn, 2019

30962325 (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."