Varaico: Literature-Extracted Genetic Variants

Gene:SGCZ
Variant:p.P196L
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SGCZ

NM_139167.4:p.P196L

Associated Papers

POT1 and Damage Response Malfunction Trigger Acquisition of Somatic Activating Mutations in the VEGF Pathway in Cardiac Angiosarcomas.

Calvete O et al.

Journal of the American Heart Association, 2019

Increased burden of rare deleterious variants of the KCNQ1 gene in patients with large‑vessel ischemic stroke.

Janicki PK et al.

Molecular Medicine Reports, 2019

30816480 (PubMed )
Supplement: supplement_2.pdf

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1464.524
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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."