Associated Papers
Cystic fibrosis-causing variants in Chinese patients with congenital absence of the vas deferens: a cohort and meta-analysis.
Lu Y et al.
Asian Journal of Andrology, 2025
Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.
McDonald EF et al.
Biorxiv : the Preprint Server for Biology, 2024
37873426 (PubMed )
Supplement: media-3.xlsx › Sheet1
Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.
McDonald EF et al.
Plos One, 2024
38271453 (PubMed )
Supplement: pone.0297560.s009.xlsx › Supp_Table_2
TRIM71 Deficiency Causes Germ Cell Loss During Mouse Embryogenesis and Is Associated With Human Male Infertility.
Torres-Fernández LA et al.
Frontiers in Cell and Developmental Biology, 2021
34055789 (PubMed )
Supplement: Data_Sheet_1.pdf
Cystic Fibrosis Mutation Spectrum in North Macedonia: A Step Toward Personalized Therapy.
Terzic M et al.
Balkan Journal of Medical Genetics : Bjmg, 2019
Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar.
Rodriguez-Flores JL et al.
Human Mutation, 2014
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