Varaico: Literature-Extracted Genetic Variants

Gene:AR
Variant:p.P342L
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AR

NM_000044.6:p.P342L

Associated Papers

Summarizing the human genes and their variants causative of non-obstructive azoospermia uncovered using whole genome/exome sequencing.

Ibrahim R et al.

Reproductive Biology, 2025

Genetic determinants of testicular sperm extraction outcomes: insights from a large multicentre study of men with non-obstructive azoospermia.

Riera-Escamilla A et al.

Human Reproduction Open, 2025

40896145 (PubMed )
Supplement: hoaf049_supplementary_data.zip › HRO-25-0045-R2-SuppTablesS2-S4_and_S6-S9.xlsx › ST6

Mutational Screening of Androgen Receptor Gene in 8224 Men of Infertile Couples.

Rocca MS et al.

The Journal of Clinical Endocrinology and Metabolism, 2023

Structural analysis of the impact of a novel androgen receptor gene mutation in two adult patients with mild androgen insensitivity syndrome.

Hage M et al.

Andrologia, 2021

Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma.

Mauri L et al.

Orphanet Journal of Rare Diseases, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."