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Fig. 3 | BMC Medical Genomics

Fig. 3

From: A novel recessive PDZD7 bi-allelic mutation in an Iranian family with non-syndromic hearing loss

Fig. 3

A schematic representation of the PDZD7 protein domains and the identified mutation p.I84T. a PDZD7 comprised of three conserved PDZ domains (yellow) and one HNLD domain (blue). All previously reported PDZD7mutations are shown and the new reported mutation is depicted in red. b Multiple alignment of PDZD7 protein sequence shows that the Ile residue at situation 84 is highly conserved across nine species

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