Varaico: Literature-Extracted Genetic Variants

Gene:TRPM6
Variant:p.T354P
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TRPM6

NM_017662.5:p.T354P

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

Case Report: Investigation and molecular genetic diagnosis of familial hypomagnesaemia.

Willows J et al.

F1000research, 2019

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

TRPM6.

Chubanov V et al.

Handbook of Experimental Pharmacology, 2014

TRPM6 and TRPM7--Gatekeepers of human magnesium metabolism.

Schlingmann KP et al.

Biochimica Et Biophysica Acta, 2007

Genetic background of HSH in three Polish families and a patient with an X;9 translocation.

Jalkanen R et al.

European Journal of Human Genetics : Ejhg, 2006

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."