Associated Papers
Candidate Genetic Modifiers in Alport Syndrome: A Case Series.
Lujinschi ȘN et al.
Life (basel, Switzerland), 2025
40003707 (PubMed )
Supplement: life-15-00298-s001.zip › life-3339776-supplementary.pdf
Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features.
Iruzubieta P et al.
Brain : a Journal of Neurology, 2024
38366623 (PubMed )
Supplement: awae046_supplementary_data.zip › brain-2023-01831-File011.xlsx › F2.II.1
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