Varaico: Literature-Extracted Genetic Variants

Gene:MUC17
Variant:p.T2842A
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MUC17

NM_001040105.2:p.T2842A

Associated Papers

Dysregulated immunity in PID patients with low GARP expression on Tregs due to mutations in LRRC32.

Lehmkuhl P et al.

Cellular & Molecular Immunology, 2021

34059789 (PubMed )
Supplement: 41423_2021_701_MOESM3_ESM.xlsx › 270

A recurrent de novo missense mutation in UBTF causes developmental neuroregression.

Toro C et al.

Human Molecular Genetics, 2018

29300972 (PubMed )
Supplement: supplementary_material_ddx435.pdf
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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."