| scholarly article | Q13442814 |
| P356 | DOI | 10.1016/J.YGENO.2020.06.024 |
| P698 | PubMed publication ID | 32562828 |
| P2093 | author name string | Jian Dong | |
| Yi Huang | |||
| Xiaoli Huang | |||
| Xinxin Lu | |||
| Mingjie Li | |||
| Huiying Rao | |||
| Yan'an Wu | |||
| Xijun Chen | |||
| Yinlong Wu | |||
| Zuwu Yao | |||
| P2860 | cites work | Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome | Q22065344 |
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| Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database | Q35205978 | ||
| Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome. | Q36768408 | ||
| A Case of IL-7R Deficiency Caused by a Novel Synonymous Mutation and Implications for Mutation Screening in SCID Diagnosis. | Q37368919 | ||
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| Engineered mutations in fibrillin-1 leading to Marfan syndrome act at the protein, cellular and organismal levels | Q38568416 | ||
| Characterization of an apparently synonymous F5 mutation causing aberrant splicing and factor V deficiency. | Q38932615 | ||
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| Human catechol-O-methyltransferase haplotypes modulate protein expression by altering mRNA secondary structure. | Q45345781 | ||
| Ligand requirements for Ca2+ binding to EGF-like domains | Q45879539 | ||
| Improved splice site detection in Genie | Q46338894 | ||
| A recurrent synonymous mutation in the human androgen receptor gene causing complete androgen insensitivity syndrome | Q48028750 | ||
| Next-generation sequencing identifies a novel compound heterozygous mutation in MYO7A in a Chinese patient with Usher Syndrome 1B. | Q50429380 | ||
| Analysis of a Chinese pedigree with Zellweger syndrome reveals a novel PEX1 mutation by next-generation sequencing. | Q51534926 | ||
| MutationTaster2: mutation prediction for the deep-sequencing age. | Q52877992 | ||
| SWISS-MODEL: homology modelling of protein structures and complexes. | Q55518681 | ||
| Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene | Q55671357 | ||
| Location on chromosome 15 of the gene defect causing Marfan syndrome | Q68923094 | ||
| Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome | Q73552939 | ||
| The price of silent mutations | Q83960871 | ||
| Antisense-based RNA therapy of factor V deficiency: in vitro and ex vivo rescue of a F5 deep-intronic splicing mutation | Q86426377 | ||
| Porcine IGF1 synonymous mutation alter gene expression and protein binding affinity with IGF1R | Q88605435 | ||
| Apparent synonymous mutation F9 c.87A>G causes secretion failure by in-frame mutation with aberrant splicing | Q92131717 | ||
| P921 | main subject | Marfan syndrome | Q208562 |
| P577 | publication date | 2020-06-17 | |
| P1433 | published in | Genomics | Q5533503 |
| P1476 | title | A synonymous mutation in exon 39 of FBN1 causes exon skipping leading to Marfan syndrome |
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