Varaico: Literature-Extracted Genetic Variants

Gene:TRPM6
Variant:p.L708P
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TRPM6

NM_017662.5:p.L708P

Associated Papers

Case Report: Novel TRPM6 Mutations Cause Hereditary Hypomagnesemia With Secondary Hypocalcemia in a Chinese Family and a Literature Review.

Han Y et al.

Frontiers in Pediatrics, 2022

New TRPM6 mutation and management of hypomagnesaemia with secondary hypocalcaemia.

Katayama K et al.

Brain & Development, 2015

Novel Alleles of gon-2, a C. elegans Ortholog of Mammalian TRPM6 and TRPM7, Obtained by Genetic Reversion Screens.

Lambie EJ et al.

Plos One, 2015

Kinase and channel activity of TRPM6 are co-ordinated by a dimerization motif and pocket interaction.

van der Wijst J et al.

The Biochemical Journal, 2014

New TRPM6 missense mutations linked to hypomagnesemia with secondary hypocalcemia.

Lainez S et al.

European Journal of Human Genetics : Ejhg, 2014

Case of hypomagnesemia with secondary hypocalcemia with a novel TRPM6 mutation.

Lal N et al.

Neurology India, 0

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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."