Varaico: Literature-Extracted Genetic Variants

Gene:ASXL3
Variant:p.M1415R
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ASXL3

NM_030632.3:p.M1415R

Associated Papers

De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies.

Dinwiddie DL et al.

Bmc Medical Genomics, 2013

24044690 (PubMed )
Supplement: 1755-8794-6-32-S1.docx
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."