MSH6 c.1004A>G ;(p.N335S)

Variant ID: 2-48026126-A-G

NM_000179.2(MSH6):c.1004A>G;(p.N335S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


OncoPan®: An NGS-Based Screening Methodology to Identify Molecular Markers for Therapy and Risk Assessment in Pancreatic Ductal Adenocarcinoma.

Biomedicines
Tibiletti, Maria Grazia MG; Carnevali, Ileana I; Pensotti, Valeria V; Chiaravalli, Anna Maria AM; Facchi, Sofia S; Volorio, Sara S; Mariette, Frederique F; Mariani, Paolo P; Fortuzzi, Stefano S; Pierotti, Marco Alessandro MA; Sessa, Fausto F
Publication Date: 2022-05-23

Variant appearance in text: MSH6: 1004A>G
PubMed Link: 35625944
Variant Present in the following documents:
  • biomedicines-10-01208.pdf
View BVdb publication page



Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Scientific Reports
Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C
Publication Date: 2017-01-04

Variant appearance in text: MSH6: 1004A>G; Asn335Ser
PubMed Link: 28050010
Variant Present in the following documents:
View BVdb publication page