Varaico: Literature-Extracted Genetic Variants

Gene:PDZD7
Variant:p.R56fs
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PDZD7

NM_001195263.2:p.R56fs

Associated Papers

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

Tlili A et al.

Human Genomics, 2024

Genetic heterogeneity in autosomal recessive hearing loss: a survey of Brazilian families.

Antunes LN et al.

Frontiers in Genetics, 2024

Exome sequencing identifies novel variants associated with non-syndromic hearing loss in the Iranian population.

Vallian Broojeni J et al.

Plos One, 2023

37561809 (PubMed )
Supplement: pone.0289247.s002.xlsx › Sheet1

Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

White JA et al.

Cancer Research Communications, 2022

36922933 (PubMed )
Supplement: crc-22-0136-s01.xlsx › ST9_Somatic_Variants

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

Fahimi H et al.

Bmc Medical Genomics, 2021

Lights and Shadows in the Genetics of Syndromic and Non-Syndromic Hearing Loss in the Italian Population.

Morgan A et al.

Genes, 2020

Atypical and ultra-rare Usher syndrome: a review.

Nolen RM et al.

Ophthalmic Genetics, 2020

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

Non-syndromic retinal ciliopathies: translating gene discovery into therapy.

Estrada-Cuzcano A et al.

Human Molecular Genetics, 2012

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."