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Table 2 Results of whole exome sequencing

From: Expansion of phenotypic spectrum of MYO15A pathogenic variants to include postlingual onset of progressive partial deafness

Inheritance pattern Gene Exonic function Relation in disease or functions OMIM Reference
Autosomal recessive PER3 Non-frame shift
deletion
FASPS3 616,882 Zhang et al.
LNP1 Non-frame shift
insertion
unknown
FADS6 Non-frame shift
insertion
Fatty acid metabolism
Compound heterozygote ABCA2 Missense/missense Macrophage lipid
metabolism
Kaminski et al.
MYO15A Missense/Non-frame shift deletion DFNB3 600,316 Wang et al., Liburd et al., Riahi et al.