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August 24, 2017Neurology GeneticsOpen Access

Ataxia-pancytopenia syndrome with SAMD9L mutations

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Authors

SGSorina GorcencoLund UniversityJKJonna Komulainen‐EbrahimOulu University HospitalKNKarin NordborgSkåne University Hospital

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Cite This Study

Gorcenco et al. (2017) studied this question.

synapsesocial.com/papers/6aaf74fec8a40e211910f97ahttps://doi.org/10.1212/nxg.0000000000000183
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Also Consider

Synapse has enriched 4 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Macular Dysfunction and Morphology in Spinocerebellar Ataxia Type 7 (SCA 7)2009 · 45 citations
  2. 2SAMD9L Inactivation Promotes Cell Proliferation via Facilitating G1-S Transition in Hepatitis B Virus-associated Hepatocellular Carcinoma2014 · 27 citations
  3. 3Scale for the assessment and rating of ataxia2006 · 2,011 citations
  4. 4Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms2017 · 213 citations