Varaico: Literature-Extracted Genetic Variants

Gene:LHFPL5
Variant:p.L192P
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LHFPL5

NM_182548.4:p.L192P

Associated Papers

Burden of Mendelian disorders in a large Middle Eastern biobank.

Aamer W et al.

Genome Medicine, 2024

38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3

LHFPL5 mutation: A rare cause of non-syndromic autosomal recessive hearing loss.

Al-Amri AH et al.

European Journal of 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."