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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CASR

Variant:p.C129W

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CASR

NM_000388.4:p.C129W

hg38:chr3:122257282 C>G

Associated Papers

Absence of calcium-sensing receptor basal activity due to inter-subunit disulfide bridges.

Ma S et al.

Communications Biology, 2024

38664468 (PubMed )

Supplement: 42003_2024_6189_MOESM3_ESM.xlsx › Figure_4

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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."