Varaico: Literature-Extracted Genetic Variants

Gene:PDZD7
Variant:p.Q550*
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PDZD7

NM_001195263.2:p.Q550*

Associated Papers

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

Du Q et al.

Bmc Medical Genomics, 2022

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

Fahimi H et al.

Bmc Medical Genomics, 2021

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

Novel recessive PDZD7 biallelic mutations associated with hereditary hearing loss in a Chinese pedigree.

Luo H et al.

Gene, 2019

Novel recessive PDZD7 biallelic mutations in two Chinese families with non-syndromic hearing loss.

Guan J et al.

American Journal of Medical Genetics. Part A, 2018

Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene.

Vona B et al.

Ear and Hearing, 0

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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."