Associated Papers
Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.
Yang G et al.
Bmc Medical Genomics, 2021
Identification of a novel compound heterozygous mutation in PTPRQ in a DFNB84 family with prelingual sensorineural hearing impairment.
Sang Q et al.
Molecular Genetics and Genomics : Mgg, 2015
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