Publications:

Identification of MLH2/hPMS1 dominant mutations that prevent DNA mismatch repair function.

Communications Biology

Reyes, Gloria X GX; Zhao, Boyu B; Schmidt, Tobias T TT; Gries, Kerstin K; Kloor, Matthias M; Hombauer, Hans H

Publication Date: 2020-12-10

Variant appearance in text: GAA: 46T>C

PubMed Link: 33303966

Variant Present in the following documents:

• 42003_2020_1481_MOESM1_ESM.pdf

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Identification of 11 potentially relevant gene mutations involved in growth retardation, intellectual disability, joint contracture, and hepatopathy.

Medicine

Diao, Hongyan H; Zhu, Peng P; Dai, Yong Y; Chen, Wenbiao W

Publication Date: 2018-11

Variant appearance in text: GAA: C16R

PubMed Link: 30431579

Variant Present in the following documents:

• medi-97-e13117-s006.xlsx, sheet 1

View BVdb publication page