A novel synonymous homozygous variant [c.2538G>A (p.Thr846Thr)] in TRPM6 in a patient with hypomagnesemia with secondary hypocalcemia
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DOI: 10.1515/jpem-2021-0165
Abstract: Abstract Objectives Hypomagnesemia 1, intestinal (HOMG1) is characterized by neurological symptoms that occur due to hypocalcemia and hypomagnesemia and caused by mutations in the TRPM6. Most of the identified variants in TRPM6 lead to premature… read more here.
Keywords: hypocalcemia; 2538g thr846thr; variant 2538g; trpm6 ... See more keywords