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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ILDR1

Variant:p.Q300delFs

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ILDR1

NM_001199799.2:p.Q300delFs

hg38:chr3:121993848 GC>G

Associated Papers

Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.

Richard EM et al.

Human Mutation, 2019

30303587 (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."