Varaico: Literature-Extracted Genetic Variants

Gene:PTHLH
Variant:p.M1I
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PTHLH

NM_198965.2:p.M1I

Associated Papers

Large scale analyses of genotype-phenotype relationships of glycine decarboxylase mutations and neurological disease severity.

Farris J et al.

Plos Computational Biology, 2020

Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities.

Santos R et al.

Antioxidants & Redox Signaling, 2010

Mutational analysis of PHEX gene in X-linked hypophosphatemia.

Dixon PH et al.

The Journal of Clinical Endocrinology and Metabolism, 1998

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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."