Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1L1
Variant:p.V3241D
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PKHD1L1

NM_177531.6:p.V3241D

Associated Papers

Non-Syndromic Autosomal Dominant Hearing Loss: The First Italian Family Carrying a Mutation in the NCOA3 Gene.

Tesolin P et al.

Genes, 2021

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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."