MLH1 c.107T>G ;(p.I36S)

Variant ID: 3-37035145-T-G

NM_000249.3(MLH1):c.107T>G;(p.I36S)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Computational and cellular studies reveal structural destabilization and degradation of MLH1 variants in Lynch syndrome.

Elife
Abildgaard, Amanda B AB; Stein, Amelie A; Nielsen, Sofie V SV; Schultz-Knudsen, Katrine K; Papaleo, Elena E; Shrikhande, Amruta A; Hoffmann, Eva R ER; Bernstein, Inge I; Gerdes, Anne-Marie AM; Takahashi, Masanobu M; Ishioka, Chikashi C; Lindorff-Larsen, Kresten K; Hartmann-Petersen, Rasmus R
Publication Date: 2019-11-07

Variant appearance in text: MLH1: I36S
PubMed Link: 31697235
Variant Present in the following documents:
  • Main text
  • elife-49138.pdf
View BVdb publication page