Title : Novel Loss-of-Function Variants in CDC14A are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patients.

Pub. Date : 2020 Jan 2

PMID : 31906439






1 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 that disrupts the splice donor site and a novel frameshift variant (c.1041dup, p.Ser348Glnfs*2) in the gene CDC14A, respectively. ser348glnfs cell division cycle 14A Homo sapiens