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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PDE1C

Variant:p.T498T

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PDE1C

NM_001191058.4:p.T498T

hg38:chr7:31824959 G>A

Associated Papers

A dominant variant in the PDE1C gene is associated with nonsyndromic hearing loss.

Wang L et al.

Human Genetics, 2018

29860631 (PubMed )

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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."