Varaico: Literature-Extracted Genetic Variants

Gene:PTHLH
Variant:p.G48E
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PTHLH

NM_198965.2:p.G48E

Associated Papers

TMEM119 (c.G143A, p.S48L) Mutation Is Involved in Primary Failure of Eruption by Attenuating Glycolysis-Mediated Osteogenesis.

Xu M et al.

International Journal of Molecular Sciences, 2024

Filopodia formation driven by membrane glycoprotein M6a depends on the interaction of its transmembrane domains.

Formoso K et al.

Journal of Neurochemistry, 2015

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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."