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Updated: Jul 5, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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在一位患有CTNNB1神经发育障碍的匈牙利患者中发现了一种新的切断变异

Nikoletta Nagy1,2, Margit Pál3,4, Dóra Nagy3,5

  • 1Department of Medical Genetics, University of Szeged, Szeged, Hungary. nagy.nikoletta@med.u-szeged.hu.

BMC pediatrics
|January 15, 2024
PubMed
概括

整体外基因组测序在一位未被诊断的神经发育障碍的匈牙利患者中发现了一种新的CTNNB1基因变异. 这一发现有助于理解CTNNB1神经发育障碍,并强调了基因查的有用性.

关键词:
在 CTNNB1 找高通量的高通量.神经发育障碍 神经发育障碍切断是为了切断.整个外基因组的测序.

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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