View in EDS

Recurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotype.

Saved in:
Bibliographic Details
Title: Recurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotype.
Authors: Jackson, Adam1, adam.jackson-5@postgrad.manchester.ac.uk, Banka, Siddharth1,2, Stewart, Helen3, Robinson, Hannah4, Lovell, Simon5, Clayton‐Smith, Jill1,2
Source: American Journal of Medical Genetics. Part A; Oct2021, Vol. 185 Issue 10, p3083-3091, 9p
Database: Applied Science & Technology Source
FullText Text:
  Availability: 0
Header DbId: aci
DbLabel: Applied Science & Technology Source
An: 152468219
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Recurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotype.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Jackson%2C+Adam%22">Jackson, Adam</searchLink><relatesTo>1</relatesTo>, <i>adam.jackson-5@postgrad.manchester.ac.uk</i><br /><searchLink fieldCode="AU" term="%22Banka%2C+Siddharth%22">Banka, Siddharth</searchLink><relatesTo>1,2</relatesTo><br /><searchLink fieldCode="AU" term="%22Stewart%2C+Helen%22">Stewart, Helen</searchLink><relatesTo>3</relatesTo><br /><searchLink fieldCode="AU" term="%22Robinson%2C+Hannah%22">Robinson, Hannah</searchLink><relatesTo>4</relatesTo><br /><searchLink fieldCode="AU" term="%22Lovell%2C+Simon%22">Lovell, Simon</searchLink><relatesTo>5</relatesTo><br /><searchLink fieldCode="AU" term="%22Clayton‐Smith%2C+Jill%22">Clayton‐Smith, Jill</searchLink><relatesTo>1,2</relatesTo>
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22American+Journal+of+Medical+Genetics%2E+Part+A%22">American Journal of Medical Genetics. Part A</searchLink>; Oct2021, Vol. 185 Issue 10, p3083-3091, 9p
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=aci&AN=152468219
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1002/ajmg.a.62370
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 9
        StartPage: 3083
    Titles:
      – TitleFull: Recurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotype.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Jackson, Adam
      – PersonEntity:
          Name:
            NameFull: Banka, Siddharth
      – PersonEntity:
          Name:
            NameFull: Stewart, Helen
      – PersonEntity:
          Name:
            NameFull: Robinson, Hannah
      – PersonEntity:
          Name:
            NameFull: Lovell, Simon
      – PersonEntity:
          Name:
            NameFull: Clayton‐Smith, Jill
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 10
              Text: Oct2021
              Type: published
              Y: 2021
          Identifiers:
            – Type: issn-print
              Value: 15524825
          Numbering:
            – Type: volume
              Value: 185
            – Type: issue
              Value: 10
          Titles:
            – TitleFull: American Journal of Medical Genetics. Part A
              Type: main
ResultId 1