Different germline variants in the XPA gene are associated with severe, intermediate, or mild neurodegeneration in xeroderma pigmentosum patients

• Jeffrey P. Sagun ,

  Contributed equally to this work with: Jeffrey P. Sagun, Sikandar G. Khan, Kyoko Imoto

  Roles Data curation, Investigation, Software, Writing – original draft, Writing – review & editing

  Affiliation Laboratory of Cancer Biology and Genetics, DNA Repair Section, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, United States of America

  https://orcid.org/0009-0002-4551-5967

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• Sikandar G. Khan ,

  Contributed equally to this work with: Jeffrey P. Sagun, Sikandar G. Khan, Kyoko Imoto

  Roles Data curation, Formal analysis, Investigation, Methodology, Writing – review & editing

  Affiliation Laboratory of Cancer Biology and Genetics, DNA Repair Section, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, United States of America

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• Kyoko Imoto ,

  Contributed equally to this work with: Jeffrey P. Sagun, Sikandar G. Khan, Kyoko Imoto

  Roles Data curation, Investigation, Methodology, Writing – review & editing

  Affiliations Laboratory of Cancer Biology and Genetics, DNA Repair Section, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, United States of America, Nara Medical University, Kashihara, Japan

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• Deborah Tamura,

  Roles Data curation, Formal analysis, Investigation, Writing – review & editing

  Affiliation Laboratory of Cancer Biology and Genetics, DNA Repair Section, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, United States of America

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• Kyu-Seon Oh,

  Roles Investigation, Writing – review & editing

  Affiliations Laboratory of Cancer Biology and Genetics, DNA Repair Section, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, United States of America, Laboratory of Molecular Biology and Immunology, National Institute on Aging, National Institutes of Health, Baltimore, Maryland, United States of America

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• John J. DiGiovanna †,

  † Deceased.

  Roles Conceptualization, Data curation, Formal analysis, Methodology, Supervision, Writing – review & editing

  Affiliation Laboratory of Cancer Biology and Genetics, DNA Repair Section, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, United States of America

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• Kenneth H. Kraemer

  Roles Conceptualization, Data curation, Formal analysis, Funding acquisition, Methodology, Project administration, Resources, Supervision, Visualization, Writing – review & editing

  * E-mail: kraemerk@nih.gov

  Affiliation Laboratory of Cancer Biology and Genetics, DNA Repair Section, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, United States of America

  https://orcid.org/0000-0002-2689-3316

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