Literature DB >> 32542787

Reply to "GGC Repeat Expansion of NOTCH2NLC is Rare in European Leukoencephalopathy".

Hiroshi Doi1, Masaki Okubo1, Ryoko Fukai1, Atsushi Fujita2, Satomi Mitsuhashi2, Keita Takahashi1, Misako Kunii1, Mikiko Tada1, Hiromi Fukuda1,2, Takeshi Mizuguchi2, Satoko Miyatake2, Noriko Miyake2, Jun Sone3,4, Gen Sobue4,5,6, Hideyuki Takeuchi1, Naomichi Matsumoto2, Fumiaki Tanaka1.   

Abstract

Entities:  

Year:  2020        PMID： 32542787     DOI： 10.1002/ana.25819

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


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  1 in total

1.  Genome-wide survey of tandem repeats by nanopore sequencing shows that disease-associated repeats are more polymorphic in the general population.

Authors:  Satomi Mitsuhashi; Martin C Frith; Naomichi Matsumoto
Journal:  BMC Med Genomics       Date:  2021-01-07       Impact factor: 3.063
  1 in total

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