Associated Papers
Real-world evaluation of gnomAD variant co-occurrence information for haplotype phasing in autosomal recessive disorders.
Kim J et al.
Human Genomics, 2025
41331868 (PubMed )
Supplement: 40246_2025_855_MOESM1_ESM.xlsx › Table_S1.
The 3M syndrome.
Huber C et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2011
A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.
Huber C et al.
European Journal of Human Genetics : Ejhg, 2009
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