Varaico: Literature-Extracted Genetic Variants

Gene:PLS1
Variant:p.E269K
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PLS1

NM_001145319.2:p.E269K

Associated Papers

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

Xu L et al.

Clinical Genetics, 2023

Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss.

Morgan A et al.

Human Mutation, 2019

Novel variant p.E269K confirms causative role of PLS1 mutations in autosomal dominant hearing loss.

Diaz-Horta O et al.

Clinical Genetics, 2019

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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."