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Keyword: Pathogenic mutation
1
Novel homozygous C3orf67 gene variant associated with primary ciliary dyskinesia in a Saudi pediatric patient: A case report
12/19/2025 8:32:38 AM | Browse: 28 | Download: 135
2
Child with adenylosuccinate lyase deficiency caused by a novel complex heterozygous mutation in the ADSL gene: A case report
10/21/2022 2:24:59 AM | Browse: 460 | Download: 1295
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