Varaico: Literature-Extracted Genetic Variants

Gene:EDNRA
Variant:p.E303A
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EDNRA

NM_001957.4:p.E303A

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
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