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FBN1 c.401G>C ;(p.C134S)
Variant ID: 15-48892377-C-G
NM_000138.4(
FBN1
):c.401G>C;(p.C134S)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
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Publications:
Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters.
European Journal Of Human Genetics : Ejhg
Publication Date: 2020-12
Variant appearance in text: FBN1: 401G>C; C134S
PubMed Link:
33262486
Variant Present in the following documents:
Main text
View BVdb publication page
Cysteine coordination of Pb(II) is involved in the PbrR-dependent activation of the lead-resistance promoter, PpbrA, from Cupriavidus metallidurans CH34.
Bmc Microbiology
Hobman, Jon L JL; Julian, Daniel J DJ; Brown, Nigel L NL
Publication Date: 2012-06-18
Variant appearance in text: MFS1: C134S
PubMed Link:
22708803
Variant Present in the following documents:
Main text
1471-2180-12-109.pdf
View BVdb publication page