Varaico: Literature-Extracted Genetic Variants

Gene:LHFPL5
Variant:p.T31fs
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LHFPL5

NM_182548.4:p.T31fs

Associated Papers

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

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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."