MLH1 c.1001dup ;(p.L335Pfs*27)

Variant ID: 3-37061916-C-CT

NM_000249.3(MLH1):c.1001dup;(p.L335Pfs*27)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Consistency and reproducibility of large panel next-generation sequencing: Multi-laboratory assessment of somatic mutation detection on reference materials with mismatch repair and proofreading deficiency.

Journal Of Advanced Research
Wang, Duo D; Zhang, Yuanfeng Y; Li, Rui R; Li, Jinming J; Zhang, Rui R
Publication Date: 2023-02

Variant appearance in text: MLH1: 1001dup; Leu335fs
PubMed Link: 36725187
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



Development of novel quality control material based on CRISPR/Cas9 editing and xenografts for MLH1 protein deficiency testing.

Journal Of Clinical Laboratory Analysis
Li, Rui R; Zhang, Runling R; Tan, Ping P; Wang, Meng M; Chen, Yuqing Y; Zhang, Jiawei J; Han, Dongsheng D; Han, Yanxi Y; Li, Jinming J; Zhang, Rui R
Publication Date: 2021-05

Variant appearance in text: MLH1: 1001dupT
PubMed Link: 33826163
Variant Present in the following documents:
  • Main text
  • JCLA-35-e23746.pdf
View BVdb publication page