1. A Greenland specific nonsense variant (p.Arg684Ter) knocks out the gene TBC1D4 only in the skeletal muscle (the variant causes late termination and so affects only the long isoform that is expressed only in skeletal muscle) https://t.co/GeGd1OEkUw
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@paulatwal @Josh52182894 @1tsS4r @whsource the muscle insulin resistance gene was figured out several years ago .https://t.co/dlq0s8lOa4
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In the above paper, the recessive model of the TBC1D4 association was realised only after looking at the blood glucose levels of homozygotes, which was disproportionately higher. https://t.co/GeGd1ODN4Y https://t.co/50Qg6Ubh96
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RT @doctorveera: This is an absolutely fascinating (old) paper, which stumbled upon today (thanks @Eric_Fauman) A protein-truncating varian…