Article
The BRCA2 genetic variant IVS7 + 2T-->G is a mutation.
Journal of human genetics - 1 Jan 2000
Pyne M T, Brothman A R, Ward B, Pruss D, Hendrickson B C, Scholl T
Abstract excerpt
Biochemical and genetic characterizations that support the conclusion that the variant BRCA2 IVS7 + 2T --> G represents a deleterious mutation are presented. RNA analysis from a breast cancer patient with BRCA2 IVS7 + 2T --> G showed that the productive message was produced from only one chromosome. A haplotype analysis confirmed that the intronic variant resides on the chromosome that does not produce the normal...
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