Varaico: Literature-Extracted Genetic Variants

Gene:MPZL2
Variant:p.P23delFs
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MPZL2

NM_005797.4:p.P23delFs

Associated Papers

Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.

Ayoub C et al.

Human Genomics, 2025

41430327 (PubMed )
Supplement: 40246_2025_891_MOESM1_ESM.xlsx › Supplementary_Table_S2.

PAM-flexible adenine base editing rescues hearing loss in a humanized MPZL2 mouse model harboring an East Asian founder mutation.

Hu SW et al.

Nature Communications, 2025

40764318 (PubMed )
Supplement: 41467_2025_62562_MOESM10_ESM.xlsx › Figure_1e

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

MPZL2 variant analysis with whole exome sequencing in a cohort of Chinese hearing loss patients.

Li W et al.

International Journal of Pediatric Otorhinolaryngology, 2023

A novel MPZL2 c.68delC variant is associated with progressive hearing loss in Chinese population and literature review.

Wang Z et al.

Laryngoscope Investigative Otolaryngology, 2022

[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."