Varaico: Literature-Extracted Genetic Variants

Gene:SKI
Variant:p.A62G
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SKI

NM_003036.4:p.A62G

Associated Papers

Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.

Akawi N et al.

Frontiers in Molecular Biosciences, 2024

39411402 (PubMed )
Supplement: Table1.XLSX › Supplemental_Table_S11

[Gene mutation analysis of 19 Uighur families with aortic disease in Kashgar, China].

Yu C et al.

Nan Fang Yi Ke Da Xue Xue Bao = Journal of Southern Medical University, 2020

Identification of STRA6 and SKI sequence variants in patients with anophthalmia/microphthalmia.

White T et al.

Molecular Vision, 2008

Genetic variation in the proto-oncogene SKI and risk for orofacial clefting.

Lu W et al.

Molecular Genetics and Metabolism, 2005

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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."