Varaico: Literature-Extracted Genetic Variants

Gene:TOR1AIP1
Variant:p.L394P
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TOR1AIP1

NM_015602.4:p.L394P

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

Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy.

Fichtman B et al.

Nature Communications, 2019

TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy.

Ghaoui R et al.

Neuromuscular Disorders : Nmd, 2016

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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."