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. 2023 Jan 30;11:e14514. doi: 10.7717/peerj.14514

Table 6. Validation of single nucleotide variants and confirmation of the diagnosis in a family with MYO15A-associated deafness.

Variant in NM_016239.4 (MYO15A) Proband Healthy mother Affected sibs
c.823G>C G/C G/C G/C
c.3576G>A G/A G/G G/A
c.5192T>C T/C T/C T/C