Associated Papers
Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.
Yin X et al.
American Journal of Human Genetics, 2024
39357517 (PubMed )
Supplement: mmc2.xlsx › c_Pred-data
CD80 and CD86 polymorphisms in populations of various ancestries: 5 new CD80 promoter alleles.
Beltrame MH et al.
Human Immunology, 2012
Diagnostic DNA testing for X-linked ocular albinism (OA1) with a hierarchical mutation screening protocol.
Hegde M et al.
Genetic Testing, 2002
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