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However, other studies including a more detailed investigation revealed that OPT2 is primarily localized to golgi and partly to the plasma membrane and have demonstrated that the opt2 has a severe vacuolar morphology (Yamauchi et al., 2015)

Single-nucleotide variant (SNV) and small insertion/deletion (INDEL) identification was based on Mutect2 of the Genome Analysis Toolkit, the detected variants were annotated using ANNOVAR, and pathogenicity was assessed using the ClinVar_20210501 database [15, 16]

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