Associated Papers
Assessment of the variant prioritization strategy for genomic newborn screening in the Generation Study.
Kaplanis J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
40684348 (PubMed )
Supplement: mmc6.xlsx › mmc6
Case Report: Novel Biallelic Variants in the COL18A1 Gene in a Chinese Family With Knobloch Syndrome.
Chong SC et al.
Frontiers in Neurology, 2022
35693012 (PubMed )
Supplement: Data_Sheet_1.xlsx › Sheet1
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