Varaico: Literature-Extracted Genetic Variants

Gene:TRPM7
Variant:p.G1046D
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TRPM7

NM_017672.6:p.G1046D

Associated Papers

Pathogenic heterozygous TRPM7 variants and hypomagnesemia with developmental delay.

Bosman W et al.

Clinical Kidney Journal, 2024

Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.

Koh HY et al.

Jama Network Open, 2023

37471090 (PubMed )
Supplement: jamanetwopen-e2324380-s001.pdf

Possible role for rare TRPM7 variants in patients with hypomagnesaemia with secondary hypocalcaemia.

Vargas-Poussou R et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2023

In silico analysis of TRPM4 variants of unknown clinical significance.

Tarnovskaya SI et al.

Plos One, 2023

38100498 (PubMed )
Supplement: pone.0295974.s001.xlsx › Table_S1_Broad_Dataset_ST
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