Varaico: Literature-Extracted Genetic Variants

Gene:LAT
Variant:p.G90delFs
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LAT

NM_001014987.2:p.G90delFs

Associated Papers

Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.

Yuan B et al.

Genome Medicine, 2022

36180924 (PubMed )
Supplement: 13073_2022_1113_MOESM1_ESM.xlsx › Table_S6

Naturally Occurring Genetic Alterations in Proximal TCR Signaling and Implications for Cancer Immunotherapy.

Kent A et al.

Frontiers in Immunology, 2021

The Clinical Aspect of Adaptor Molecules in T Cell Signaling: Lessons Learnt From Inborn Errors of Immunity.

Dinur-Schejter Y et al.

Frontiers in Immunology, 2021

Early onset combined immunodeficiency and autoimmunity in patients with loss-of-function mutation in LAT.

Keller B et al.

The Journal of Experimental Medicine, 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."