Varaico: Literature-Extracted Genetic Variants

Gene:LHFPL5
Variant:p.C173S
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LHFPL5

NM_182548.4:p.C173S

Associated Papers

Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity.

Riahi Z et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

41359850 (PubMed )
Supplement: pnas.2518445122.sapp.pdf

High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5.

Lerat J et al.

Clinical Genetics, 2019

Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment.

Liaqat K et al.

Journal of Human Genetics, 2018

Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing.

Ammar-Khodja F et al.

Molecular Genetics & Genomic Medicine, 2015

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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."