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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AP2S1

Variant:p.L141P

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AP2S1

NM_004069.6:p.L141P

hg38:chr19:46838454 A>G

Associated Papers

Expanding the spectrum of genetic variants in the calcium-sensing receptor (CASR) gene in hypercalcemic individuals.

Nissen PH et al.

Clinical Endocrinology, 2019

31433865 (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."