Varaico: Literature-Extracted Genetic Variants

Gene:STAG2
Variant:p.A638fs
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STAG2

NM_001042750.2:p.A638fs

Associated Papers

De novo loss-of-function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies.

Mullegama SV et al.

American Journal of Medical Genetics. Part A, 2017

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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."