MLH1 c.967C>A ;(p.L323M)

Variant ID: 3-37061883-C-A

NM_000249.3(MLH1):c.967C>A;(p.L323M)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Development and Analytical Validation of a Targeted Next-Generation Sequencing Panel to Detect Actionable Mutations for Targeted Therapy.

Oncotargets And Therapy
Wang, Dandan D; Ma, Kai K; Deng, Wei W; Li, Jingyu J; Xiang, Shaohua S; Zhang, Yang Y; Fu, Ying Y; Dai, Heng H; Huang, Bingding B
Publication Date: 2021

Variant appearance in text: MLH1: L323M
PubMed Link: 33854338
Variant Present in the following documents:
  • Main text
  • ott-14-2423.pdf
View BVdb publication page



SinoDuplex: An Improved Duplex Sequencing Approach to Detect Low-frequency Variants in Plasma cfDNA Samples.

Genomics, Proteomics & Bioinformatics
Ren, Yongzhe Y; Zhang, Yang Y; Wang, Dandan D; Liu, Fengying F; Fu, Ying Y; Xiang, Shaohua S; Su, Li L; Li, Jiancheng J; Dai, Heng H; Huang, Bingding B
Publication Date: 2020-02

Variant appearance in text: MLH1: 967C>A; L323M
PubMed Link: 32428603
Variant Present in the following documents:
  • mmc6.xlsx, sheet 1
  • mmc6.xlsx, sheet 2
  • mmc8.xlsx, sheet 3
  • mmc8.xlsx, sheet 1
  • mmc8.xlsx, sheet 2
  • mmc8.xlsx, sheet 4
View BVdb publication page



A robust targeted sequencing approach for low input and variable quality DNA from clinical samples.

Npj Genomic Medicine
So, Austin P AP; Vilborg, Anna A; Bouhlal, Yosr Y; Koehler, Ryan T RT; Grimes, Susan M SM; Pouliot, Yannick Y; Mendoza, Daniel D; Ziegle, Janet J; Stein, Jason J; Goodsaid, Federico F; Lucero, Michael Y MY; De La Vega, Francisco M FM; Ji, Hanlee P HP
Publication Date: 2018

Variant appearance in text: MLH1: L323M
PubMed Link: 29354287
Variant Present in the following documents:
  • 41525_2017_41_MOESM1_ESM.pdf
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: MLH1: 967C>A; L323M
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Development and validation of the JAX Cancer Treatment Profile™ for detection of clinically actionable mutations in solid tumors.

Experimental And Molecular Pathology
Ananda, Guruprasad G; Mockus, Susan S; Lundquist, Micaela M; Spotlow, Vanessa V; Simons, Al A; Mitchell, Talia T; Stafford, Grace G; Philip, Vivek V; Stearns, Timothy T; Srivastava, Anuj A; Barter, Mary M; Rowe, Lucy L; Malcolm, Joan J; Bult, Carol C; Karuturi, Radha Krishna Murthy RK; Rasmussen, Karen K; Hinerfeld, Douglas D
Publication Date: 2015-02

Variant appearance in text: MLH1: L323M
PubMed Link: 25562415
Variant Present in the following documents:
  • Main text
View BVdb publication page