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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TOR1AIP1

Variant:p.D61delFs

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TOR1AIP1

NM_015602.4:p.D61delFs

hg38:chr1:179882684 AC>A

Associated Papers

Selective loss of a LAP1 isoform causes a muscle-specific nuclear envelopathy.

Lornage X et al.

Neurogenetics, 2021

33405017 (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."