Varaico: Literature-Extracted Genetic Variants

Gene:OSBPL2
Variant:p.Q53delFs
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OSBPL2

NM_144498.4:p.Q53delFs

Associated Papers

Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.

Ayoub C et al.

Human Genomics, 2025

41430327 (PubMed )
Supplement: 40246_2025_891_MOESM1_ESM.xlsx › Supplementary_Table_S2.

OSBPL2 compound heterozygous variants cause dyschromatosis, ichthyosis, deafness and atopic disease syndrome.

Wang Y et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2024

Searching for the Molecular Basis of Partial Deafness.

Oziębło D et al.

International Journal of Molecular Sciences, 2022

Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation.

Rim JH et al.

Human Genetics, 2022

34519870 (PubMed )
Supplement: 439_2021_2367_MOESM1_ESM.pdf

A novel pathogenic variant in OSBPL2 linked to hereditary late-onset deafness in a Mongolian family.

Wu N et al.

Bmc Medical 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."