机译:LMX1a中的变体导致常染色体隐性严重的深刻听力障碍
Baylor Coll Med Ctr Stat Genet Dept Mol &
Human Genet One Baylor Plaza 700D Houston TX 77030;
Baylor Coll Med Ctr Stat Genet Dept Mol &
Human Genet One Baylor Plaza 700D Houston TX 77030;
Quaid I Azam Univ Fac Biol Sci Dept Biotechnol Islamabad Pakistan;
Quaid I Azam Univ Fac Biol Sci Dept Biochem Islamabad Pakistan;
Ajou Univ Dept Mol Sci &
Technol SPEL Suwon 443749 South Korea;
Quaid I Azam Univ Fac Biol Sci Dept Biochem Islamabad Pakistan;
Univ Washington Dept Genome Sci Seattle WA 98195 USA;
Univ Washington Dept Genome Sci Seattle WA 98195 USA;
Quaid I Azam Univ Fac Biol Sci Dept Biochem Islamabad Pakistan;
Quaid I Azam Univ Fac Biol Sci Dept Biochem Islamabad Pakistan;
Baylor Coll Med Ctr Stat Genet Dept Mol &
Human Genet One Baylor Plaza 700D Houston TX 77030;
LMX1A; Autosomal recessive hearing impairment; Deafness; Exome sequencing;
机译:LMX1a中的变体导致常染色体隐性严重的深刻听力障碍
机译:LHFPL5中的新型麦克信和3'-UTR剪接部位变体导致常染色体隐性非合成型听力障碍
机译:Coch基因中的双位等位基因灭活变体导致常染色体隐性的预期听力障碍
机译:金毛犬常染色体隐性的IChthyosisis:PNPLA1突变等位基因在不同种群中的分布和频率
机译:智能疾病和自闭症谱系血型术中的常染色体隐性变体
机译:LMX1A的变异体会导致常染色体隐性遗传性重度至重度听力障碍
机译:S1PR2中罕见的错义变异导致的常染色体隐性听力障碍