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Updated: Jun 14, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

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在PNLDC1中出现了一种新的误解变异,与非阻塞性亚精子症相关

Mouness Rahimian1, Masomeh Askari, Najmeh Salehi

  • 1Department of Genetics, Marvdasht Branch, Islamic Azad University, Marvdasht, Iran. m.totonchi@royaninstitute.org.

Journal of genetics
|September 3, 2024
PubMed
概括

一种新的PNLDC1基因变异被确定为非阻性精子缺血症 (NOA) 的原因,这是一种严重的男性不孕症状况. 这一发现有助于对特异性NOA病例进行遗传诊断和咨询.

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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.
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