C36702Level 7
Inactivating PMS1 Gene Mutation
**Semantic type:** Cell or Molecular Dysfunction
**Definition:** A change in the nucleotide sequence of the PMS1 gene that either inhibits expression or results in the translation of an inactive PMS1 protein homolog 1 protein.
**Synonyms:** - Inactivating HNPCC3 Gene Mutation - Inactivating MLH2 Gene Mutation - Inactivating PMS1 Homolog 1, Mismatch Repair System Component Gene Mutation - Inactivating PMS1 Mutation - Inactivating PMSL1 Gene Mutation - Loss of Function PMS1 Gene Mutation - Loss of Function PMS1 Mutation - PMS1 Gene Inactivation - PMS1 Mismatch Repair Gene Inactivation
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