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Functional genomics of OCTN2 variants informs protein-specific variant effect predictor for Carnitine Transporter Deficiency.
Koleske, Megan L; McInnes, Gregory; Brown, Julia E H; Thomas, Neil; Hutchinson, Keino; Chin, Marcus Y; Koehl, Antoine; Arkin, Michelle R; Schlessinger, Avner; Gallagher, Renata C; Song, Yun S; Altman, Russ B; Giacomini, Kathleen M.
Affiliation
  • Koleske ML; Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, CA 94143.
  • McInnes G; Biomedical Informatics Training Program, Stanford University, Stanford, CA 94305.
  • Brown JEH; Empirico Inc., San Diego, CA 92122.
  • Thomas N; Program in Bioethics, University of California, San Francisco, CA 94143.
  • Hutchinson K; Institute for Health & Aging, University of California, San Francisco, CA 94143.
  • Chin MY; Computer Science Division, University of California, Berkeley, CA 94720.
  • Koehl A; Department of Pharmacological Sciences, Icahn School of Medicine at Mt. Sinai, New York, NY 10029.
  • Arkin MR; Small Molecule Discovery Center, Department of Pharmaceutical Chemistry, University of California, San Francisco, CA 94143.
  • Schlessinger A; Department of Statistics, University of California, Berkeley, CA 94720.
  • Gallagher RC; Small Molecule Discovery Center, Department of Pharmaceutical Chemistry, University of California, San Francisco, CA 94143.
  • Song YS; Department of Pharmacological Sciences, Icahn School of Medicine at Mt. Sinai, New York, NY 10029.
  • Altman RB; Institute for Human Genetics, University of California, San Francisco, CA 94143.
  • Giacomini KM; Department of Pediatrics, University of California, San Francisco, CA 94143.
Proc Natl Acad Sci U S A ; 119(46): e2210247119, 2022 Nov 16.
Article in En | MEDLINE | ID: mdl-36343260
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Carnitine / Organic Cation Transport Proteins Type of study: Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Proc Natl Acad Sci U S A Year: 2022 Type: Article
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Carnitine / Organic Cation Transport Proteins Type of study: Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Proc Natl Acad Sci U S A Year: 2022 Type: Article