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Andrew M. Schaefer

Newcastle University

Newcastle upon Tyne

NE1 7RU

United Kingdom

SCHOLARLY PAPERS

1

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60

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0

Scholarly Papers (1)

1.

Genetic Analysis and Multimodal Imaging Confirm M.12148t>C Mitochondrial Variant Pathogenicity Leading to Multisystem Dysfunction

Number of pages: 19 Posted: 26 Jun 2024
Stanford University, Harvard University, Kaiser Permanente South Sacramento Medical Center, affiliation not provided to SSRN, Qazvin University of Medical Sciences, King Saud University - King Saud Medical City, affiliation not provided to SSRN, King Saud University - King Saud Medical City, King Saud University - King Saud Medical City, affiliation not provided to SSRN, Harvard University, University of Northampton, Universidad Nacional Federico Villarreal, Stanford University, Newcastle University, Newcastle University, Stanford University, Duke University and affiliation not provided to SSRN
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Abstract:

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Patient Specific iPSC Variant Modelling, Machine Learning, Heteroplasmy, Rare Mitochondrial Variant, Single Cell Arms-qPCR