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PDZD7 encodes a ciliary protein homologous to proteins which are mutated in Usher syndrome patients, and mutations and translocations involving this gene have been associated with two types of Usher syndrome. Multiple transcript variants encoding different isoforms have been found for this gene.
Gene Name: | PDZ Domain Containing 7 |
Synonyms: | PDZD7, PDZK7, BA108L7.8, PDZ domain containing 7 |
Target Sequences: | NM_024895 NP_079171.1 Q9H5P4 |
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