Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse
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DOI: 10.1371/journal.pgen.1007297
Abstract: Autosomal recessive nonsyndromic hearing loss is a genetically heterogeneous disorder. Here, we report a severe-to-profound sensorineural hearing loss locus, DFNB100 on chromosome 5q13.2-q23.2. Exome enrichment followed by massive parallel sequencing revealed a c.2510G>A transition variant… read more here.
Keywords: ppip5k2; mutations diphosphoinositol; hearing loss; associated hearing ... See more keywords