Varaico: Literature-Extracted Genetic Variants

Gene:AUTS2
Variant:p.Q496*
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AUTS2

NM_015570.4:p.Q496*

Associated Papers

Establishment of human induced pluripotent stem cell line (SDQLCHi060-A) from a patient with AUTS2 syndrome carrying a heterozygous mutation in AUTS2 gene.

Gao C et al.

Stem Cell Research, 2023

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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."