Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.W15L
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CASR

NM_000388.4:p.W15L

Associated Papers

Ap2s1 mutation causes hypercalcaemia in mice and impairs interaction between calcium-sensing receptor and adaptor protein-2.

Hannan FM et al.

Human Molecular Genetics, 2021

33729479 (PubMed )
Supplement: hmg-2020-d-00791_hannan_supplementary_appendix_tracked_ddab076.docx

Genetic testing for hereditary hyperparathyroidism and familial hypocalciuric hypercalcaemia in a large UK cohort.

Mariathasan S et al.

Clinical Endocrinology, 2020

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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."