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Further imputation was carried out in the most promising loci using 566 EUR reference haplotypes from the August 2010 release of 1000G on the MACHpre-phasingand Minimac-omp programsSNPs with an imputation-r 20.5 and MAF>0.1passed the quality check.

This section provides information about the protein and gene name(sand synonym(sand about the organism that is the source of the protein sequence.

This section describes post-translational modificationsPTMsand/or processing events.

Other SERPINA1 gene mutations lead to the production of an abnormally small form of alpha-1 antitrypsin that is quickly broken down in the liverAs a resultlittle or no alpha-1 antitrypsin is available in the lungsWhile the liver remains healthy in individuals with these mutationsthe lungs are left unprotected from neutrophil elastase.

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