EVAapplication/xmlftp://ftp.ebi.ac.uk/pub/databases/eva/PRJEB29975/MSTN_SNP.accessioned.vcf.gzftp://ftp.ebi.ac.uk/pub/databases/eva/PRJEB29975/MSTN_SNP.vcf.gzftp://ftp.ebi.ac.uk/pub/databases/eva/PRJEB29975/MSTN_SNP.vcf.gz.tbiprimaryOK2000000CurationGenomicsThe Roslin Institute (University of Edinburgh)-Sus Scrofahttps://www.ebi.ac.uk/eva/?eva-study=PRJEB29975EVAcluster, Warthogs, 2810411E12Rik, Wart, Lower extremity weakness, Phacochoerus, Materials, Gm393., syndrome associated with disease or disorder, selection process, Map-6, pig, pigs, Wart Hog, Growth Differentiation Factor 8, Gene, BC058979, Clusters, Sus scrofus, Cistrons, syndromic disease or disorder, Mutations, Hog, Muscle weakness in lower limbs, STOP, symptom cluster, Stable tubule-only polypeptide, "syndrome, Symptom Cluster, "syndrome" EXACT [MTH:NOCODE], symptom clusters, Genetic Materials, symptom, Mtap6, 145-kDa STOP, wild boar, Wart Hogs, Genetic Material, MAP-6, Lower limb muscle weakness, DmelCG3973, Suidae, Genetic, STOP145, Lower limb weakness, syndrome, INSDC_feature:gene, syndromes, Symptom, clusters, Pigs, NOS" EXACT [SNOMEDCT_2005_07_31:64572001], Syndromes, Cluster, Material, Gm689, syndromic disease, boars, GDF8, Symptom Clusters, swine, Leg weakness, Hogs, Cistron, CG3973, Myostatin, GDF-8Newborn Infants, Neonates, NEWBORN (0-27 DAYS), cluster, Neonatal, other disease, 2810411E12Rik, Lower extremity weakness, Materials, syndrome associated with disease or disorder, Infants, Map-6, disorders, Genome Sequencing, Neonate, Gene, Clusters, Cistrons, syndromic disease or disorder, Mutations, Muscle weakness in lower limbs, STOP, Complete Genome, symptom cluster, "syndrome, Stable tubule-only polypeptide, diseases, Symptom Cluster, "syndrome" EXACT [MTH:NOCODE], Diseases, symptom clusters, disease or disorder, Newborn Infant, symptom, Genetic Materials, condition, Mtap6, 145-kDa STOP, diseases and disorders, Genetic Material, MAP-6, Lower limb muscle weakness, human disease, Complete, Whole Genome, Genetic, Lower limb weakness, STOP145, Newborns, Complete Genome Sequencing, syndrome, INSDC_feature:gene, syndromes, Sequencing, Symptom, clusters, non-neoplastic, disease, NOS" EXACT [SNOMEDCT_2005_07_31:64572001], Syndromes, Cluster, Material, syndromic disease, Whole, Symptom Clusters, Leg weakness, carrier, disorder, Newborn, Cistron, Homo sapiens disease, medical condition.0falseBalancing selection at a premature stop mutation in the myostatin gene underlies a recessive leg weakness syndrome in pigsWhole genome sequencing of newborn piglets showing Leg Weakness syndrome (cases) and carrier dams (heterozygous) identified a premature stop mutation at the myostating gene for this recessive disease.2018-11-27PRJEB299759823