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 › e_Cli-data
Molecular basis of familial adenomatous polyposis in the southeast of Brazil: identification of six novel mutations.
Araujo LF et al.
The International Journal of Biological Markers, 2019
Achieving high-sensitivity for clinical applications using augmented exome sequencing.
Patwardhan A et al.
Genome Medicine, 2015
26269718 (PubMed )
Supplement: 13073_2015_197_MOESM8_ESM.xlsx › Sheet1
Mutational spectrum of APC and genotype-phenotype correlations in Greek FAP patients.
Fostira F et al.
Bmc Cancer, 2010
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