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A missense variant in NUF2, a component of the kinetochore NDC80 complex, causes impaired chromosome segregation and aneuploidy associated with microcephaly and short stature

Daniela Tiaki Uehara, Hiroshi Mitsubuchi, Johji Inazawa

2021Human Genetics12 citationsDOI

Topics & Concepts

BiologyKinetochoreMicrocephalyGeneticsChromosome segregationCell biologyChromosomeGeneMicrotubule and mitosis dynamicsGenomic variations and chromosomal abnormalitiesGenomics and Rare Diseases
A missense variant in NUF2, a component of the kinetochore NDC80 complex, causes impaired chromosome segregation and aneuploidy associated with microcephaly and short stature | Litcius