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PMS2

MIM.600259 7p22

PSML2, HNPCC4

 
7p22

The PMS2 gene encodes a protein involved in the mismatch repair (MMR) complex.

Pathology

-  PMS2 mutations in Turcot syndrome with glioblastoma (MIM.276300)
-  PMS2 mutations in syndrome associating cutaneous cafe-au-lait spots (CALS) and early-onset supratentorial primitive neuroectodermal tumor (SPNET) (MIM.608623) (#15077197#)

See also

-  DNA mismatch repair (MMR) complex


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