Varaico: Literature-Extracted Genetic Variants

Gene:TOR1AIP1
Variant:p.P43fs
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TOR1AIP1

NM_015602.4:p.P43fs

Associated Papers

Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies.

Lessel I et al.

Human Genetics, 2020

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

Fichtman B et al.

Nature Communications, 2019

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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."