MSH6 c.67del ;(p.A23Pfs*58)

Variant ID: 2-48010437-AG-A

NM_000179.2(MSH6):c.67del;(p.A23Pfs*58)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


High Prevalence of Constitutional Mismatch Repair Deficiency in a Pediatric T-cell Lymphoblastic Lymphoma Cohort.

Hemasphere
Kroeze, Emma E; Weijers, Dilys D DD; Hagleitner, Melanie M MM; de Groot-Kruseman, Hester A HA; Jongmans, Marjolijn C J MCJ; Kuiper, Roland P RP; Pieters, Rob R; Meijerink, Jules P P JPP; Loeffen, Jan L C JLC
Publication Date: 2022-01

Variant appearance in text: MSH6: 67delG
PubMed Link: 34964038
Variant Present in the following documents:
  • Main text
  • hs9-6-e668.pdf
View BVdb publication page