Varaico: Literature-Extracted Genetic Variants

Gene:TRPM6
Variant:p.E157*
Back to variants list

TRPM6

NM_017662.5:p.E157*

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

Long-term Clinical Follow-up of Patients with Familial Hypomagnesemia with Secondary Hypocalcemia

Bayramoğlu E et al.

Journal of Clinical Research in Pediatric Endocrinology, 2021

New TRPM6 mutation and management of hypomagnesaemia with secondary hypocalcaemia.

Katayama K et al.

Brain & Development, 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

Transient receptor potential genes and human inherited disease.

Everett KV

Advances in Experimental Medicine and Biology, 2011

A case of hypomagnesemia with secondary hypocalcemia caused by Trpm6 gene mutation.

Apa H et al.

Indian Journal of Pediatrics, 2008

TRPM6 and TRPM7--Gatekeepers of human magnesium metabolism.

Schlingmann KP 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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."