Varaico: Literature-Extracted Genetic Variants

Gene:GAPDH
Variant:p.R80Q
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GAPDH

NM_002046.7:p.R80Q

Associated Papers

Early-onset tufting enteropathy in HAI-2-deficient mice is independent of matriptase-mediated cleavage of EpCAM.

Szabo R et al.

Development (cambridge, England), 2023

Functional and clinical relevance of novel and known PCSK1 variants for childhood obesity and glucose metabolism.

Löffler D et al.

Molecular Metabolism, 2017

28271036 (PubMed )
Supplement: mmc1.doc

Vitamin D receptor mutations in patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets.

Malloy PJ et al.

Molecular Genetics and Metabolism, 2014

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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."