Publications
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Filters: Author is Coban-Akdemir, Zeynep and Keyword is Polymorphism, Single Nucleotide [Clear All Filters]
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Exome variant discrepancies due to reference-genome differences. Am J Hum Genet. 2021 ;108(7):1239-1250.
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Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 ;9(1):26.
. Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. Am J Hum Genet. 2016 ;99(4):831-845.
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