Article

Identification of a Homozygous Nonsense Variant in KCTD19 Causing Meiotic Arrest and Non-obstructive Azoospermia in Humans

2025-09-09

Abstract excerpt

<title>Abstract</title> Background The genetic etiology of non-obstructive azoospermia (NOA) with maturation arrest (MA) remains incompletely characterized. Results Through whole-exome sequencing, a homozygous nonsense variant (c.119G > A, p.W40X) in <italic>KCTD19</italic> was identified in two unrelated Chinese NOA patients. This variant disrupts the evolutionarily conserved BTB domain and leads to the absen...

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Literature Corpus work: aa91392d-8d07-5ae0-9e20-d88bbc9c3294
DOI: 10.21203/rs.3.rs-7475505/v1

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