Publications:

Case Report: A Novel Homozygous Missense Variant of FBN3 Supporting It Is a New Candidate Gene Causative of a Bardet-Biedl Syndrome-Like Phenotype.

Frontiers In Genetics

Genovesi, Maria Luce ML; Torres, Barbara B; Goldoni, Marina M; Salvo, Eliana E; Cesario, Claudia C; Majolo, Massimo M; Mazza, Tommaso T; Piscopo, Carmelo C; Bernardini, Laura L

Publication Date: 2022

Variant appearance in text: FBN1: Ile2616Val

PubMed Link: 35910214

Variant Present in the following documents:

• Main text
• fgene-13-924362.pdf

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: FBN1: 7846A>G; Ile2616Val

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.

Bmc Genetics

Yang, Ren-Qiang RQ; Jabbari, Javad J; Cheng, Xiao-Shu XS; Jabbari, Reza R; Nielsen, Jonas B JB; Risgaard, Bjarke B; Chen, Xu X; Sajadieh, Ahmad A; Haunsø, Stig S; Svendsen, Jesper Hastrup JH; Olesen, Morten S MS; Tfelt-Hansen, Jacob J

Publication Date: 2014-06-18

Variant appearance in text: FBN1: 7846A>G; I2616V; rs143677764

PubMed Link: 24941995

Variant Present in the following documents:

• Main text
• 1471-2156-15-74.pdf

View BVdb publication page