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In silico analysis of a novel pathogenic variant c.7G > A in C14orf39 gene identified by WES in a Pakistani family with azoospermia.

Molecular genetics and genomics : MGG - 1 May 2022

Ali Haider, Unar Ahsanullah, Zubair Muhammad, Dil Sobia, Ullah Farman, Khan Ihsan, Hussain Ansar, Shi Qinghua

Abstract excerpt

Infertility is a multifactorial disorder that affects approximately 12% of couples of childbearing ages worldwide. Few studies have been conducted to understand the genetic causes of infertility in depth. The synaptonemal complex (SC), which is essential for the progression of meiosis, is a conserved tripartite structure that binds homologous chromosomes together and is thus required for fertility. This study...

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PMID: 35305148
DOI: 10.1007/s00438-022-01876-4

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