Publications
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Author Title [ Year] Filters: First Letter Of Title is F and Author is Gonzaga-Jauregui, Claudia [Clear All Filters]
Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide. Eur J Hum Genet 28, 1243-1264 (2020).
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants. Genet Med 22, 1338-1347 (2020).