Varaico: Literature-Extracted Genetic Variants

Gene:PDZD7
Variant:p.C732fs
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PDZD7

NM_001195263.2:p.C732fs

Associated Papers

Genetic analysis of 106 sporadic cases with hearing loss in the UAE population.

Tlili A et al.

Human Genomics, 2024

Atypical and ultra-rare Usher syndrome: a review.

Nolen RM et al.

Ophthalmic Genetics, 2020

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."