New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome. (Record no. 23930900)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01479 a2200445 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516220445.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201411s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1471-2156 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1186/1471-2156-15-74 |
| Source of number or code | doi |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | NLM |
| Language of cataloging | eng |
| Transcribing agency | NLM |
| 100 1# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Yang, Ren-Qiang |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20141104 |
| 245 00 - TITLE STATEMENT | |
| Title | New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | BMC genetics |
| Date of publication, distribution, etc. | Jun 2014 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 74 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Computational Biology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | False Positive Reactions |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Association Studies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Variation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Humans |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Marfan Syndrome |
| General subdivision | epidemiology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Prevalence |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jabbari, Javad |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cheng, Xiao-Shu |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jabbari, Reza |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nielsen, Jonas B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Risgaard, Bjarke |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chen, Xu |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sajadieh, Ahmad |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Haunsø, Stig |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Svendsen, Jesper Hastrup |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Olesen, Morten S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tfelt-Hansen, Jacob |
| 773 0# - HOST ITEM ENTRY | |
| Title | BMC genetics |
| Related parts | vol. 15 |
| -- | p. 74 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1186/1471-2156-15-74">https://doi.org/10.1186/1471-2156-15-74</a> |
| Public note | Available from publisher's website |
No items available.