Summary of the missense mutations identified.
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https://figshare.com/articles/dataset/_Summary_of_the_missense_mutations_identified_/1143137
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+Mutation nomenclature according to NM_000249.3 (MLH1), NM_000251.2 (MSH2) and NM_000179.2 (MSH6). For the nomenclature of mutations nucleotide 1 is the A of the ATG-translation initiation codon.
++Class 1: not pathogenic.
Class 3: uncertain.
Class 5: pathogenic.
+++BC – breast cancer.
CRC – colorectal cancer.
GC – gastric cancer.
OC – ovarian cancer.
创建时间:
2014-08-18



