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XB--987495
Papers associated with auts2 (and Disease Ontology)
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Fbrsl1 is required for heart development in Xenopus laevis and de novo variants in FBRSL1 can cause human heart defects., Berger H, Gerstner S, Horstmann MF, Pauli S, Borchers A., Dis Model Mech. June 1, 2024; 17 (6):  |
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De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome., Ufartes R, Berger H, Till K, Salinas G, Sturm M, Altmüller J, Nürnberg P, Thiele H, Funke R, Apeshiotis N, Langen H, Wollnik B, Borchers A, Pauli S., Hum Genet. November 1, 2020; 139 (11): 1363-1379.  |
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