Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.A988G
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CASR

NM_000388.4:p.A988G

Associated Papers

Intractable Generalized Epilepsy and Autosomal Dominant Hypocalcemia: A Case Report.

Rossi GC et al.

Child Neurology Open, 2019

Anticonvulsant treatment associated with intractable hypocalcaemia in a female child with hypoparathyroidism.

Formosa N et al.

Hormone Research in Paediatrics, 2015

Roles of the calcium sensing receptor in the central nervous system.

Ruat M et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2013

An idiopathic epilepsy syndrome linked to 3q13.3-q21 and missense mutations in the extracellular calcium sensing receptor gene.

Kapoor A et al.

Annals of Neurology, 2008

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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."