LMLN c.611A>C ;(p.E204A)

Variant ID: 3-197707258-A-C

NM_001136049.2(LMLN):c.611A>C;(p.E204A)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO).

The Journal Of Clinical Investigation
Kennedy, Ann M AM; Inada, Masaki M; Krane, Stephen M SM; Christie, Paul T PT; Harding, Brian B; López-Otín, Carlos C; Sánchez, Luis M LM; Pannett, Anna A J AA; Dearlove, Andrew A; Hartley, Claire C; Byrne, Michael H MH; Reed, Anita A C AA; Nesbit, M Andrew MA; Whyte, Michael P MP; Thakker, Rajesh V RV
Publication Date: 2005-10

Variant appearance in text: Msp: E204A
PubMed Link: 16167086
Variant Present in the following documents:
  • Main text
View BVdb publication page