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Biorxiv : the Preprint Server for Biology, 2025
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Supplement: media-1.xlsx › WNT_DC_CBE_Screen
Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.
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Supplement: mmc2.xlsx › b_non-structural
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Medrxiv : the Preprint Server for Health Sciences, 2024
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Supplement: media-2.xlsx › Table_S5
Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings.
Edghill EL et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
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