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Named medicines, compounds, vaccines, and pharmacological agents. Examples include metformin, semaglutide, antibiotics.

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Met404Arg

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Articles mentioning Met404Arg

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Biallelic pathogenic TULP3 variants presenting as neonatal cholestasis, liver fibrosis and neurological manifestations

jmedgenet · abstract · 2025-09-19 · 1 matching annotations

76.0%

Met404Arg hepatorenocardiac degenerative fibrosis hypertrophic cardiomyopathy fibrocystic kidney disease liver fibrosis liver transplantation attention deficit hyperactivity disorder neonatal cholestasis portal hypertension

…hile Gly431Arg reduced the localisation of TULP3 in cilia. Both Met404Arg and Gly431Arg impaired ciliogenesis and the trafficking of ARL1…