A splice-site variant (c.3289-1G>T) in OTOF underlies profound hearing loss in a Pakistani kindred

BMC medical genomics, pp. 22021.

Cited by: 0|Bibtex|Views7|DOI:https://doi.org/10.1186/s12920-020-00859-x
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Other Links: pubmed.ncbi.nlm.nih.gov

Abstract:

Our findings reveal an OTOF splice-site variant as pathogenic for profound hearing loss in this family.

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