Thus, total exome sequencing was executed to identify book compound heterozygous SMG9 variants (NM_019108.Several c.1318_1319delAG (r.Ser440*) as well as h.947A>G (s.His316Arg)) inside the proband, which showed syndromic cerebral handicap. Strains have been validated as segregating in their influenced cousin and also other unaffected family […] View