https://www.selleckchem.com/pr....oducts/Rapamycin.htm
We report the underlying genetic causes of prelingual hearing loss (HL) segregating in eight large consanguineous families, ascertained from the Punjab province of Pakistan. Exome sequencing followed by segregation analysis revealed seven potentially pathogenic variants, including four novel alleles c.257GA, c.6083AC, c.89AG, and c.1249AG of CLPP, CDH23, COL4A5, and LARS2, respectively. We also identified three previously reported HL-causing variants (c.4528CT, c.35delG, and c.1219TC) of MYO15A, GJB2, and TMPRS
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