Genotype and Phenotype Analyses of a Novel <i>WFS1</i> Variant (c.2512C>T p.(Pro838Ser)) Associated with DFNA6/14/38
The aim of this study is to contribute to a better description of the genotypic and phenotypic spectrum of DFNA6/14/38 and aid in counseling future patients identified with this variant. Therefore, we describe the genotype and phenotype in a large Dutch–German family (W21-1472) with autosomal domina...
Main Authors: | , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
MDPI AG
2023-02-01
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Series: | Genes |
Subjects: | |
Online Access: | https://www.mdpi.com/2073-4425/14/2/457 |