Varaico: Literature-Extracted Genetic Variants

Gene:ELL
Variant:p.S519Fs
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ELL

NM_006532.4:p.S519Fs

Associated Papers

Case report: A novel nonsense mutation in the MARVELD2 gene causes nonsyndromic hearing loss in a China family.

Huang C et al.

Frontiers in Genetics, 2024

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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."