Varaico: Literature-Extracted Genetic Variants

Gene:AIRE
Variant:p.L62V
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AIRE

NM_000383.4:p.L62V

Associated Papers

Spectrum of germline AIRE mutations causing APS-1 and familial hypoparathyroidism.

Cranston T et al.

European Journal of Endocrinology, 2022

Genetic Screening in a Large Chinese Cohort of Childhood Onset Hypoparathyroidism by Next-Generation Sequencing Combined with TBX1-MLPA.

Wang Y et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2019

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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."