FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
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Yang, X., Lu, B. (2020.5.15). Location data for Rrp4 mutations. 
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FBrf0245694
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Rrp4M13 has a 3bp insertion (ACC) and a 25bp deletion in exon 1.
Rrp4M39 has a 5bp deletion in exon 1. It also has a 294bp deletion, 5bp insertion in exon2. The inserted sequence is not shown in the figure.
See the associated file. The inserted sequence in exon 2 is not shown in the figure.
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Related Publication(s)
Research paper

Genetic and genomic studies of pathogenic EXOSC2 mutations in the newly described disease SHRF implicate the autophagy pathway in disease pathogenesis.
Yang et al., 2020, Hum. Mol. Genet. 29(4): 541--553 [FBrf0245116]

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File date: 2020.5.15 ; File size: 398721 ; File format: pdf ; File name: Yang.2020.5.15-Rrp4_mutations.pdf
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    English
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