Varaico: Literature-Extracted Genetic Variants

Gene:PLS1
Variant:p.N327_E328Splc
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PLS1

NM_001145319.2:p.N327_E328Splc

Associated Papers

Mutation analysis of GJB2, SLC26A4, GJB3 and mtDNA12SrRNA genes in 251 non-syndromic hearing loss patients in Fujian, China.

Xiong Y et al.

International Journal of Pediatric Otorhinolaryngology, 2024

A novel PLS1 c.981+1G>A variant causes autosomal-dominant hereditary hearing loss in a family.

Xu L et al.

Clinical Genetics, 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."