Varaico: Literature-Extracted Genetic Variants

Gene:TRPM6
Variant:p.A399delFs
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TRPM6

NM_017662.5:p.A399delFs

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

Exome sequencing identifies a novel frameshift variant causing hypomagnesemia with secondary hypocalcemia.

Azim MK et al.

Cen Case Reports, 2019

Novel TRPM6 mutations in familial hypomagnesemia with secondary hypocalcemia.

Zhao Z et al.

American Journal of Nephrology, 2013

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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."