Skip to content
← Back to this collection

PUBLICATIONS · 20137775

Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome.

Open original source → · Download preserved record

Bibliographic metadata only. No full-text article or abstract is reproduced. Absence of a captured notice is not confirmation that a publication is clear of corrections or retractions.

Journal
Am J Hum Genet
Publication date
2010 Feb 12
First author
Schneppenheim R

Publication notices

absence is not clearance
true
has correction metadata
false
has expression of concern metadata
false
has retraction in link
false
pubmed marks article retracted
false
pubmed marks retraction notice
false
relationships

    Authors and identifiers

    1. name
      Schneppenheim R
      type
      Author
    2. name
      Frühwald MC
      type
      Author
    3. name
      Gesk S
      type
      Author
    4. name
      Hasselblatt M
      type
      Author
    5. name
      Jeibmann A
      type
      Author
    6. name
      Kordes U
      type
      Author
    7. name
      Kreuz M
      type
      Author
    8. name
      Leuschner I
      type
      Author
    9. name
      Martin Subero JI
      type
      Author
    10. name
      Obser T
      type
      Author
    11. name
      Oyen F
      type
      Author
    12. name
      Vater I
      type
      Author
    Complete bibliographic record and source provenance
    authors
    1. name
      Schneppenheim R
      type
      Author
    2. name
      Frühwald MC
      type
      Author
    3. name
      Gesk S
      type
      Author
    4. name
      Hasselblatt M
      type
      Author
    5. name
      Jeibmann A
      type
      Author
    6. name
      Kordes U
      type
      Author
    7. name
      Kreuz M
      type
      Author
    8. name
      Leuschner I
      type
      Author
    9. name
      Martin Subero JI
      type
      Author
    10. name
      Obser T
      type
      Author
    11. name
      Oyen F
      type
      Author
    12. name
      Vater I
      type
      Author
    bibliography ids
    1. nci-bib-030e01bfa091c868f2fdf111
    book metadata
    content sha256
    fcdbe6651ca8bf0c1a6f19ba486d06de47f1b173320d4116b1b27cd68acb93c6
    document type
    citation
    dois
    1. 10.1016/j.ajhg.2010.01.013
    electronic publication date
    display
    2010 Feb 4
    precision
    day
    year
    2010
    evidence scope
    bibliographic_metadata_only
    id
    pubmed:20137775
    immutable id
    pubmed:20137775@fcdbe6651ca8bf0c1a6f19ba486d06de47f1b173320d4116b1b27cd68acb93c6
    journal
    abbreviation
    Am J Hum Genet
    issn electronic
    1537-6605
    issn print
    0002-9297
    issue
    2
    name
    American journal of human genetics
    nlm unique id
    0370475
    pages
    279-84
    volume
    86
    languages
    1. eng
    notices
    absence is not clearance
    true
    has correction metadata
    false
    has expression of concern metadata
    false
    has retraction in link
    false
    pubmed marks article retracted
    false
    pubmed marks retraction notice
    false
    relationships
      outcomes validated
      false
      pmid
      20137775
      provenance
      batch id
      708c7929ee1eff455330
      provider
      NCBI PubMed ESummary
      record sha256
      9d03f45c153d9b0d498e13df2973d5c675a20cbb7d37352b5050339240365c90
      response sha256
      d245af3dbc636ffc79325b3798c7bfda16faf0a3d796681b12b8d89bd68eb450
      retrieved at
      2026-09-09T23:46:31.496840+00:00
      publication date
      display
      2010 Feb 12
      precision
      day
      year
      2010
      publication types
      1. Case Reports
      2. Journal Article
      3. Research Support, Non-U.S. Gov't
      record status
      PubMed - indexed for MEDLINE
      schema version
      1.0
      source url
      https://pubmed.ncbi.nlm.nih.gov/20137775/
      title
      Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome.

      Preserved source evidence · Independent clinical review pending · Not medical advice