Variant pathogenicity evaluation in the community-driven Inherited Neuropathy Variant Browser. (Record no. 28115006)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01302 a2200385 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517202649.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201905s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1098-1004 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/humu.23412 |
| 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 | Saghira, Cima |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20190513 |
| 245 00 - TITLE STATEMENT | |
| Title | Variant pathogenicity evaluation in the community-driven Inherited Neuropathy Variant Browser. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human mutation |
| Date of publication, distribution, etc. | 05 2018 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 635-642 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 | Alleles |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Charcot-Marie-Tooth Disease |
| General subdivision | genetics |
| 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 | Humans |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Internet |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Residence Characteristics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Search Engine |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | User-Computer Interface |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bis, Dana M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stanek, David |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Strickland, Alleene |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Herrmann, David N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Reilly, Mary M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Scherer, Steven S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shy, Michael E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Züchner, Stephan |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human mutation |
| Related parts | vol. 39 |
| -- | no. 5 |
| -- | p. 635-642 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/humu.23412">https://doi.org/10.1002/humu.23412</a> |
| Public note | Available from publisher's website |
No items available.