Associated Papers
Mutational Landscape of Patients with Wiskott Aldrich Syndrome: Update from India.
Gaikwad P et al.
Journal of Clinical Immunology, 2024
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.
Choufani S et al.
American Journal of Human Genetics, 2022
36130591 (PubMed )
Supplement: mmc3.pdf
When WAS Gene Diagnosis Is Needed: Seeking Clues Through Comparison Between Patients With Wiskott-Aldrich Syndrome and Idiopathic Thrombocytopenic Purpura.
Jin YY et al.
Frontiers in Immunology, 2019
Whole-exome sequencing identifies Y1495X of SCN5A to be associated with familial conduction disease and sudden death.
Tan ZP et al.
Scientific Reports, 2014
25010007 (PubMed )
Supplement: srep05616-s2.xls › dominant_result_new
Evidence for a novel GTPase priming step in the SRP protein targeting pathway.
Lu Y et al.
The Embo Journal, 2001
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