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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CSE1L

Variant:p.R151_T152insFs

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CSE1L

NM_001316.4:p.R151_T152insFs

hg38:chr20:49066487 T>TTGGG

Associated Papers

Speech and language deficits are central to SETBP1 haploinsufficiency disorder.

Morgan A et al.

European Journal of Human Genetics : Ejhg, 2021

33907317 (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."