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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC12A2

Variant:p.E993*

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SLC12A2

NM_001046.3:p.E993*

hg38:chr5:128177152 G>T

Associated Papers

Identification of Novel Candidate Genes and Variants for Hearing Loss and Temporal Bone Anomalies.

Santos-Cortez RLP et al.

Genes, 2021

33924653 (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."