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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RPGRIP1L

Variant:p.E60_N61insATA

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RPGRIP1L

NM_015272.5:p.E60_N61insATA

hg38:chr16:53696203 C>CNNNNNNNNN

Associated Papers

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )

Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HPK8_het

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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."