Varaico: Literature-Extracted Genetic Variants

Gene:TRPM6
Variant:p.K670Splc
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TRPM6

NM_017662.5:p.K670Splc

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

The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?

Zlotogora J

Israel Journal of Health Policy Research, 2019

31839005 (PubMed )
Supplement: 13584_2019_345_MOESM1_ESM.xlsx › Negev_Bedouins

Transient receptor potential genes and human inherited disease.

Everett KV

Advances in Experimental Medicine and Biology, 2011

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

Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia.

Walder RY et al.

Nature Genetics, 2002

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."