Associated Papers
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
39085601 (PubMed )
Supplement: 439_2024_2691_MOESM2_ESM.xlsx › MSH2
Variant curation and interpretation in hereditary cancer genes: An institutional experience in Latin America.
Manotas MC et al.
Molecular Genetics & Genomic Medicine, 2023
36905130 (PubMed )
Supplement: MGG3-11-e2141-s004.xlsx › CI_Variants-Manual_Curation_
Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.
White JA et al.
Cancer Research Communications, 2022
36922933 (PubMed )
Supplement: crc-22-0136-s01.xlsx › ST1_Known_Germline_Variants
Classification of mismatch repair gene missense variants with PON-MMR.
Ali H et al.
Human Mutation, 2012
Microsatellite instability at tetranucleotide repeats in sporadic colorectal cancer in Japan.
Yamada K et al.
Oncology Reports, 2010
Oncogenic pathway of sporadic colorectal cancer with novel germline missense mutations in the hMSH2 gene.
Yamada K et al.
Oncology Reports, 0
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