Associated Papers
Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual With a De Novo PAK2 Variant.
Werren EA et al.
American Journal of Medical Genetics. Part A, 2025
Chinese Family With Knobloch Syndrome Associated With a Novel PAK2 Variant Leading to Reduced Phosphorylation Levels.
Shen L et al.
Molecular Genetics & Genomic Medicine, 2025
Proof of Concept for Genome Profiling of the Neurofibroma/Sarcoma Sequence in Neurofibromatosis Type 1.
Cannizzaro IR et al.
International Journal of Molecular Sciences, 2024
39409151 (PubMed )
Supplement: ijms-25-10822-s001.zip › Supplementary_Table_S1.xlsx › Primary_tumor_ACMG_AMP
New kinase-deficient PAK2 variants associated with Knobloch syndrome type 2.
Schnur RE et al.
Clinical Genetics, 2024
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