Varaico: Literature-Extracted Genetic Variants

Gene:PDZD7
Variant:p.M166_G167insC*
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PDZD7

NM_001195263.2:p.M166_G167insC*

Associated Papers

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 in two Chinese families with non-syndromic hearing loss.

Guan J et al.

American Journal of Medical Genetics. Part A, 2018

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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."