walking bass, ching-a-ding, oom-pah
2 Matching Annotations
- Jul 2023
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docdrop.org docdrop.org
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- Jul 2017
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www.sciencedirect.com www.sciencedirect.com
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The Leu249 residue (exon 7) is a pterin-binding residue in PAH.
Structural data suggesting that Leu249 is located in the Pterin binding domain, could apply to pathogenicity criteria for NM_000277.1(PAH):c.745C>T (p.Leu249Phe) https://www.ncbi.nlm.nih.gov/clinvar/variation/102821/
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