FBN1 c.5494C>T ;(p.R1832C)

Variant ID: 15-48744810-G-A

NM_000138.4(FBN1):c.5494C>T;(p.R1832C)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Late-onset bilateral lens dislocation and glaucoma associated with a novel mutation in FBN1.

Molecular Vision
Deng, Ting T; Dong, Bing B; Zhang, Xiaohui X; Dai, Hanjun H; Li, Yang Y
Publication Date: 2008-06-30

Variant appearance in text: FBN1: R1832C
PubMed Link: 18615205
Variant Present in the following documents:
  • Main text
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