Publications
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Filters: Author is Õunap, Katrin and First Letter Of Title is P [Clear All Filters]
PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene. Eur J Med Genet 63, 103660 (2020).
POLRMT mutations impair mitochondrial transcription causing neurological disease. Nat Commun 12, 1135 (2021).