Associated Papers
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 › F1.II.2
A probabilistic model to predict clinical phenotypic traits from genome sequencing.
Chen YC et al.
Plos Computational Biology, 2014
25188385 (PubMed )
Supplement: pcbi.1003825.s014.xlsx › TableS12
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