Varaico: Literature-Extracted Genetic Variants

Gene:MS4A12
Variant:p.S63delFs
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MS4A12

NM_017716.3:p.S63delFs

Associated Papers

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HPK8_het

Common and rare variants in patients with early onset drusen maculopathy.

de Breuk A et al.

Clinical Genetics, 2022

36053979 (PubMed )
Supplement: CGE-102-414-s009.xlsx › Blad1

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
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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."