Varaico: Literature-Extracted Genetic Variants

Gene:SET
Variant:p.N101S
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SET

NM_001122821.2:p.N101S

Associated Papers

TOLLIP acts as a cargo adaptor to promote lysosomal degradation of aberrant ER membrane proteins.

Hayashi Y et al.

The Embo Journal, 2023

37929762 (PubMed )
Supplement: EMBJ-42-e114272-s006.pdf

Whole exome sequencing and transcriptome analysis in two unrelated patients with novel SET mutations.

Pan X et al.

Journal of Human Genetics, 2023

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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."