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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ELSPBP1

Variant:p.E116_T117insFs

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ELSPBP1

NM_022142.5:p.E116_T117insFs

hg38:chr19:48016029 T>TGAAAC

Associated Papers

Study of complex structural variations of X-linked deafness-2 based on single-molecule sequencing.

Jiang Y et al.

Bioscience Reports, 2021

33860785 (PubMed )

Supplement: BSR-2020-3740_supp.pdf

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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."