Varaico: Literature-Extracted Genetic Variants

Gene:PTHLH
Variant:p.E100A
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PTHLH

NM_198965.2:p.E100A

Associated Papers

Juvenile-onset PSAT1-related neuropathy: A milder phenotype of serine deficiency disorder.

Shen Y et al.

Frontiers in Genetics, 2022

Crystal structure of the E2 transactivation domain of human papillomavirus type 11 bound to a protein interaction inhibitor.

Wang Y et al.

The Journal of Biological Chemistry, 2004

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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."