Varaico: Literature-Extracted Genetic Variants

Gene:MPZL2
Variant:p.I24fs
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MPZL2

NM_005797.4:p.I24fs

Associated Papers

Founder Variants of the Turkish.

Kablan A

Clinical Genetics, 2026

Hearing restoration by gene replacement therapy for a multisite-expressed gene in a mouse model of human DFNB111 deafness.

Jiang L et al.

American Journal of Human Genetics, 2024

Recurrent missense variant identified in two unrelated families with MPZL2-related hearing loss, expanding the variant spectrum associated with DFNB111.

Lo E et al.

American Journal of Medical Genetics. Part A, 2024

MPZL2-a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population.

Zhang L et al.

Bmc Medical Genomics, 2024

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

Antunes LN et al.

Frontiers in Genetics, 2024

The Cause of Hereditary Hearing Loss in GJB2 Heterozygotes-A Comprehensive Study of the GJB2/DFNB1 Region.

Safka Brozkova D et al.

Genes, 2021

Rare deleterious germline variants and risk of lung cancer.

Liu Y et al.

Npj Precision Oncology, 2021

33594163 (PubMed )
Supplement: 41698_2021_146_MOESM2_ESM.pdf

A homozygous MPZL2 deletion is associated with non syndromic hearing loss in a moroccan family.

Amalou G et al.

International Journal of Pediatric Otorhinolaryngology, 2021

MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse.

Wesdorp M et al.

American Journal of Human Genetics, 2018

MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss.

Bademci G et al.

Human Genetics, 2018

[Sequencing of SLC26A4 exons 7 and 8 and hot spot mutation analysis in 1552 moderate to profound sensorineural hearing loss patients in China].

Dai P et al.

Zhonghua Yi Xue Za Zhi, 2007

[The roles of connexin genes in sporadic hearing loss population].

Li QZ et al.

Zhonghua Yi Xue Za Zhi, 2007

[A study on PARKIN gene in three pedigrees with autosomal recessive early-onset Parkinson's disease].

Jin M et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2005

[Screening for mitochondrial DNA mutation in two pedigrees with nonsyndromic inherited sensorineural hearing loss].

Li W et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2002

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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."