Varaico: Literature-Extracted Genetic Variants

Gene:TRPM6
Variant:p.R1179Splc
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TRPM6

NM_017662.5:p.R1179Splc

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

Transient receptor potential genes and human inherited disease.

Everett KV

Advances in Experimental Medicine and Biology, 2011

TRP channels in kidney disease.

Hsu YJ et al.

Biochimica Et Biophysica Acta, 2007

Novel TRPM6 mutations in 21 families with primary hypomagnesemia and secondary hypocalcemia.

Schlingmann KP et al.

Journal of the American Society of Nephrology : Jasn, 2005

Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family.

Schlingmann KP et al.

Nature Genetics, 2002

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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."