Identification of a new splice-acceptor mutation in HFM1 and functional analysis through molecular docking in nonobstructive azoospermia
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Developmental Biology,Obstetrics and Gynecology,Genetics,Reproductive Medicine,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s10815-022-02433-z.pdf
Reference34 articles.
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2. Tournaye H, Krausz C, Oates RD. Novel concepts in the aetiology of male reproductive impairment. Lancet Diabetes Endocrinol. 2017;5(7):544–53.
3. Saebnia N, Neshati Z, Bahrami A. Role of microRNAs in etiology of azoospermia and their application as non-invasive biomarkers in diagnosis of azoospermic patients. J Gynecol Obstet Hum Reprod. 2021:102207.
4. Araujo TF, et al. Sequence analysis of 37 candidate genes for male infertility: challenges in variant assessment and validating genes. Andrology. 2020;8(2):434–41.
5. Kherraf Z-E, et al. SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes. EMBO Mol Med. 2017;9:1132–49.
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1. How exome sequencing improves the diagnostics and management of men with non‐syndromic infertility;Andrology;2024-08-09
2. A novel splicing mutation in helicase for meiosis 1 leads to non-obstructive azoospermia;Journal of Assisted Reproduction and Genetics;2023-08-14
3. Genetic variants underlying spermatogenic arrests in men with non-obstructive azoospermia;Cell Cycle;2023-02-05
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