Varaico: Literature-Extracted Genetic Variants

Gene:TOR1AIP1
Variant:p.A33insFs
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TOR1AIP1

NM_015602.4:p.A33insFs

Associated Papers

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

Lornage X et al.

Neurogenetics, 2021

Muscular involvement and tendon contracture in limb-girdle muscular dystrophy 2Y: a mild adult phenotype and literature review.

Feng X et al.

Bmc Musculoskeletal Disorders, 2020

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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."