Publications:

Unique mutational profile associated with a loss of TDG expression in the rectal cancer of a patient with a constitutional PMS2 deficiency.

Dna Repair

Vasovcak, P P; Krepelova, A A; Menigatti, M M; Puchmajerova, A A; Skapa, P P; Augustinakova, A A; Amann, G G; Wernstedt, A A; Jiricny, J J; Marra, G G; Wimmer, K K

Publication Date: 2012-07-01

Variant appearance in text: NF1: 1242C>T

PubMed Link: 22608206

Variant Present in the following documents:

• Main text

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