Varaico: Literature-Extracted Genetic Variants

Gene:MPZL2
Variant:p.L18F
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MPZL2

NM_005797.4:p.L18F

Associated Papers

Unraveling the genetic basis of post-infancy diagnosed sensorineural hearing loss using whole exome sequencing.

Li W et al.

Hearing Research, 2025

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

Li W et al.

International Journal of Pediatric Otorhinolaryngology, 2023

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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."