Literature DB >> 8352285

The designation of mutations.

E Beutler.   

Abstract

Mesh：

Year:  1993        PMID： 8352285      PMCID： PMC1682427     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  1 in total

1.  Beta 141 Leu is not deleted in the unstable haemoglobin Atlanta-Coventry but is replaced by a novel amino acid of mass 129 daltons.

Authors:  S O Brennan; J Shaw; J Allen; P M George
Journal:  Br J Haematol       Date:  1992-05       Impact factor: 6.998
  1 in total
  5 in total

1.  A performance evaluation study: Variant annotation tools - the enigma of clinical next generation sequencing (NGS) based genetic testing.

Authors:  Sachleen Tuteja; Sabah Kadri; Kai Lee Yap
Journal:  J Pathol Inform       Date:  2022-07-28

2.  Locus Reference Genomic sequences: an improved basis for describing human DNA variants.

Authors:  Raymond Dalgleish; Paul Flicek; Fiona Cunningham; Alex Astashyn; Raymond E Tully; Glenn Proctor; Yuan Chen; William M McLaren; Pontus Larsson; Brendan W Vaughan; Christophe Béroud; Glen Dobson; Heikki Lehväslaiho; Peter Em Taschner; Johan T den Dunnen; Andrew Devereau; Ewan Birney; Anthony J Brookes; Donna R Maglott
Journal:  Genome Med       Date:  2010-04-15       Impact factor: 11.117

3.  Defining "mutation" and "polymorphism" in the era of personal genomics.

Authors:  Roshan Karki; Deep Pandya; Robert C Elston; Cristiano Ferlini
Journal:  BMC Med Genomics       Date:  2015-07-15       Impact factor: 3.063

Review 4.  Available resources and challenges for the clinical annotation of somatic variations.

Authors:  Catherine I Dumur
Journal:  Cancer Cytopathol       Date:  2014-08-08       Impact factor: 5.284

Review 5.  Molecular techniques for the personalised management of patients with chronic myeloid leukaemia.

Authors:  Mary Alikian; Robert Peter Gale; Jane F Apperley; Letizia Foroni
Journal:  Biomol Detect Quantif       Date:  2017-02-14
  5 in total

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