Varaico: Literature-Extracted Genetic Variants

Gene:MAPK1
Variant:p.E303K
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MAPK1

NM_002745.5:p.E303K

Associated Papers

Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding.

Kurihara Y et al.

The Journal of Clinical Investigation, 2023

36637912 (PubMed )
Supplement: jci-133-151536-s133.pdf

Gene mutations impede oocyte maturation, fertilization, and early embryonic development.

Fei CF et al.

Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology, 2022

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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."