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Rare disease variant curation from literature: assessing gaps with creatine transport deficiency in focus.
Lyons, Erica L; Watson, Daniel; Alodadi, Mohammad S; Haugabook, Sharie J; Tawa, Gregory J; Hannah-Shmouni, Fady; Porter, Forbes D; Collins, Jack R; Ottinger, Elizabeth A; Mudunuri, Uma S.
Affiliation
  • Lyons EL; Advanced Biomedical Computational Science, Frederick National Laboratory for Cancer Research, Frederick, MD, 21702, USA.
  • Watson D; Advanced Biomedical Computational Science, Frederick National Laboratory for Cancer Research, Frederick, MD, 21702, USA.
  • Alodadi MS; Advanced Biomedical Computational Science, Frederick National Laboratory for Cancer Research, Frederick, MD, 21702, USA.
  • Haugabook SJ; Division of Preclinical Innovation, Therapeutic Development Branch, Therapeutics for Rare and Neglected Diseases (TRND) Program, National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, 20892, USA.
  • Tawa GJ; Division of Preclinical Innovation, Therapeutic Development Branch, Therapeutics for Rare and Neglected Diseases (TRND) Program, National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, 20892, USA.
  • Hannah-Shmouni F; Division of Translational Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, 20892, USA.
  • Porter FD; Division of Translational Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, 20892, USA.
  • Collins JR; Advanced Biomedical Computational Science, Frederick National Laboratory for Cancer Research, Frederick, MD, 21702, USA.
  • Ottinger EA; Division of Preclinical Innovation, Therapeutic Development Branch, Therapeutics for Rare and Neglected Diseases (TRND) Program, National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, 20892, USA. elizabeth.ottinger@nih.gov.
  • Mudunuri US; Advanced Biomedical Computational Science, Frederick National Laboratory for Cancer Research, Frederick, MD, 21702, USA. uma.mudunuri@nih.gov.
BMC Genomics ; 24(1): 460, 2023 Aug 16.
Article in En | MEDLINE | ID: mdl-37587458
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Creatine / Rare Diseases Limits: Humans Language: En Journal: BMC Genomics Journal subject: GENETICA Year: 2023 Type: Article Affiliation country: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Creatine / Rare Diseases Limits: Humans Language: En Journal: BMC Genomics Journal subject: GENETICA Year: 2023 Type: Article Affiliation country: United States