Publications:

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: FBN1: C750G

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 1

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Identification and study of a FBN1 gene mutation in a Chinese family with ectopia lentis.

Molecular Vision

Li, Hongyi H; Qu, Wei W; Meng, Bo B; Zhang, Shuihua S; Yang, Tao T; Huang, Shangzhi S; Yuan, Huiping H

Publication Date: 2012

Variant appearance in text: FBN1: C750G

PubMed Link: 22393277

Variant Present in the following documents:

• Main text
• mv-v18-504.pdf

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Classical and neonatal Marfan syndrome mutations in fibrillin-1 cause differential protease susceptibilities and protein function.

The Journal Of Biological Chemistry

Kirschner, Ryan R; Hubmacher, Dirk D; Iyengar, Garud G; Kaur, Jasvir J; Fagotto-Kaufmann, Christine C; Brömme, Dieter D; Bartels, Rainer R; Reinhardt, Dieter P DP

Publication Date: 2011-09-16

Variant appearance in text: FBN1: C750G

PubMed Link: 21784848

Variant Present in the following documents:

• Main text

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The molecular genetics of Marfan syndrome and related disorders.

Journal Of Medical Genetics

Robinson, P N PN; Arteaga-Solis, E E; Baldock, C C; Collod-Béroud, G G; Booms, P P; De Paepe, A A; Dietz, H C HC; Guo, G G; Handford, P A PA; Judge, D P DP; Kielty, C M CM; Loeys, B B; Milewicz, D M DM; Ney, A A; Ramirez, F F; Reinhardt, D P DP; Tiedemann, K K; Whiteman, P P; Godfrey, M M

Publication Date: 2006-10

Variant appearance in text: FBN1: C750G

PubMed Link: 16571647

Variant Present in the following documents:

• Main text

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