Associated Papers
Viral host range factors antagonize pathogenic SAMD9 and SAMD9L variants.
Gahr S et al.
Experimental Cell Research, 2023
Ataxia pancytopenia syndrome due to SAMD9L mutation presenting as demyelinating neuropathy.
Vaughan D et al.
Journal of the Peripheral Nervous System : Jpns, 2020
A novel germline SAMD9L mutation in a family with ataxia-pancytopenia syndrome and pediatric acute lymphoblastic leukemia.
Cheah JJC et al.
Haematologica, 2019
Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7.
Pastor VB et al.
Haematologica, 2018
Ataxia-pancytopenia syndrome with SAMD9L mutations.
Gorcenco S et al.
Neurology. Genetics, 2017
Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms.
Tesi B et al.
Blood, 2017
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