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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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A novel REEP1 splicing mutation with broad clinical variability in a family with hereditary spastic paraplegia

Seong-Yong Park1, Jin-Mo Park2, Byeonghyeon Lee1

  • 1Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu, Republic of Korea; School of Life Sciences, BK21 Plus KNU Creative BioResearch Group, Kyungpook National University, Daegu, Republic of Korea.

Gene
|September 9, 2020
PubMed

Keywords:
AsymptomaticHereditary spastic paraplegiaNovel splicing mutationREEP1Whole-exome sequencing

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