Varaico: Literature-Extracted Genetic Variants

Gene:MPDZ
Variant:p.Q171E
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MPDZ

NM_001378778.1:p.Q171E

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

Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent.

Lucas SEM et al.

Plos One, 2018

29924831 (PubMed )
Supplement: pone.0199178.s003.xlsx › Sheet1

Sequence variations of the human MPDZ gene and association with alcoholism in subjects with European ancestry.

Karpyak VM et al.

Alcoholism, Clinical and Experimental Research, 2009

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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."