Varaico: Literature-Extracted Genetic Variants

Gene:LHFPL5
Variant:p.R176C
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LHFPL5

NM_182548.4:p.R176C

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

Genetic heterogeneity in autosomal recessive hearing loss: a survey of Brazilian families.

Antunes LN et al.

Frontiers in Genetics, 2024

Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.

Zeng B et al.

Frontiers in Oncology, 2021

33889545 (PubMed )
Supplement: Table_3.XLSX › Sheet1

Variability in Cochlear Implantation Outcomes in a Large German Cohort With a Genetic Etiology of Hearing Loss.

Tropitzsch A et al.

Ear and Hearing, 0

37438890 (PubMed )
Supplement: aud-44-1464-s001.pdf
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