Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.P748L
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CASR

NM_000388.4:p.P748L

Associated Papers

Atypical skeletal manifestations of rickets in a familial hypocalciuric hypercalcemia patient.

Wu B et al.

Bone Research, 2017

Disorders of the calcium-sensing receptor and partner proteins: insights into the molecular basis of calcium homeostasis.

Hannan FM et al.

Journal of Molecular Endocrinology, 2016

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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."