Publications

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Author Title [ Year(Desc)]
Filters: Author is Kunkel, Louis M  [Clear All Filters]
2017
Reddy, H. M. et al. The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. J Hum Genet 62, 243-252 (2017).
2021
Oláhová, M. et al. POLRMT mutations impair mitochondrial transcription causing neurological disease. Nat Commun 12, 1135 (2021).