Varaico: Literature-Extracted Genetic Variants

Gene:AKR7A2
Variant:p.R120Q
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AKR7A2

NM_003689.4:p.R120Q

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_MOESM2_ESM.xlsx › 270

Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy.

Osborn DPS et al.

American Journal of Human Genetics, 2017

28190459 (PubMed )
Supplement: mmc2.xlsx › Table_S4_candidate_genes_
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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."