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Identification of a Potential Founder Effect of a Novel PDZD7 Variant Involved in Moderate-to-Severe Sensorineural Hearing Loss in Koreans
PDZD7, a PDZ domain-containing scaffold protein, is critical for the organization of Usher syndrome type 2 (USH2) interactome. Recently, biallelic PDZD7 variants have been associated with autosomal-recessive, non-syndromic hearing loss (ARNSHL). Indeed, we identified novel, likely pathogenic PDZD7 v...
Gorde:
| Argitaratua izan da: | Int J Mol Sci |
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| Egile Nagusiak: | , , , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
MDPI
2019
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6747409/ https://ncbi.nlm.nih.gov/pubmed/31454969 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms20174174 |
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