Varaico: Literature-Extracted Genetic Variants

Gene:PDZD7
Variant:p.R557fs
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PDZD7

NM_001195263.2:p.R557fs

Associated Papers

Full etiologic spectrum of pediatric severe to profound hearing loss of consecutive 119 cases.

Kim YS et al.

Scientific Reports, 2022

35853923 (PubMed )
Supplement: 41598_2022_16421_MOESM1_ESM.pdf

Novel homozygous variant in the PDZD7 gene in a family with nonsyndromic sensorineural hearing loss.

Du Q et al.

Bmc Medical Genomics, 2022

Identification of a Potential Founder Effect of a Novel PDZD7 Variant Involved in Moderate-to-Severe Sensorineural Hearing Loss in Koreans.

Lee SY et al.

International Journal of Molecular Sciences, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."