FBN1 c.4711G>T ;(p.G1571C)

Variant ID: 15-48760171-C-A

NM_000138.4(FBN1):c.4711G>T;(p.G1571C)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.

Bmc Genomics
Lastella, Patrizia P; Surdo, Nicoletta Concetta NC; Resta, Nicoletta N; Guanti, Ginevra G; Stella, Alessandro A
Publication Date: 2006-09-22

Variant appearance in text: FBN1: G1571C
PubMed Link: 16995940
Variant Present in the following documents:
  • Main text
  • 1471-2164-7-243.pdf
View BVdb publication page