Varaico: Literature-Extracted Genetic Variants

Gene:POMT2
Variant:p.G646S
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POMT2

NM_013382.7:p.G646S

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

Multi-genic pattern found in rare type of hypopituitarism: a whole-exome sequencing study of Han Chinese with pituitary stalk interruption syndrome.

Guo QH et al.

Journal of Cellular and Molecular Medicine, 2017

28707430 (PubMed )
Supplement: JCMM-21-3626-s002.xlsx › Sheet1
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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."