Associated Papers
Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis.
Marín-Quílez A et al.
Blood, 2023
36395340 (PubMed )
Supplement: BLOOD_BLD-2022-016995-mmc1.pdf
NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases.
Perea-Romero I et al.
Human Genetics, 2021
34448047 (PubMed )
Supplement: 439_2021_2343_MOESM2_ESM.xlsx › Suppl_Table_S7
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