Publications:

Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Perez-Valencia, Juan A JA; Gallon, Richard R; Chen, Yunjia Y; Koch, Jakob J; Keller, Markus M; Oberhuber, Klaus K; Gomes, Alicia A; Zschocke, Johannes J; Burn, John J; Jackson, Michael S MS; Santibanez-Koref, Mauro M; Messiaen, Ludwine L; Wimmer, Katharina K

Publication Date: 2020-12

Variant appearance in text: MSH6: 10C>G

PubMed Link: 32773772

Variant Present in the following documents:

• Main text
• 41436_2020_Article_925.pdf

View BVdb publication page