Publications
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Author Title [ Year] Filters: Keyword is Homozygote 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).
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. Am J Hum Genet 94, 915-23 (2014).