JAMES LUPSKI to ATPases Associated with Diverse Cellular Activities
This is a "connection" page, showing publications JAMES LUPSKI has written about ATPases Associated with Diverse Cellular Activities.
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Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes. Genome Med. 2021 04 12; 13(1):55.
Score: 0.173
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Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism. Am J Hum Genet. 2020 02 06; 106(2):272-279.
Score: 0.159
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Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. Am J Hum Genet. 2016 Oct 06; 99(4):831-845.
Score: 0.126
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Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 03 21; 9(1):26.
Score: 0.033