Identification of a novel PMS2 alteration c.505C>G (R169G) in trans with a PMS2 pathogenic mutation in a patient with constitutional mismatch repair deficiency
Crossref DOI link: https://doi.org/10.1007/s10689-016-9902-8
Published Online: 2016-03-26
Published Print: 2016-10
Update policy: https://doi.org/10.1007/springer_crossmark_policy
Mork, Maureen E.
Borras, Ester
Taggart, Melissa W.
Cuddy, Amanda
Bannon, Sarah A.
You, Y. Nancy
Lynch, Patrick M.
Ramirez, Pedro T.
Rodriguez-Bigas, Miguel A.
Vilar, Eduardo
Funding for this research was provided by:
Feinberg Family Fund
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