Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.M1029V
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SETBP1

NM_015559.3:p.M1029V

Associated Papers

Homozygous Variant in KASH5 Causes Premature Ovarian Insufficiency by Disordered Meiotic Homologous Pairing.

Zhang Q et al.

The Journal of Clinical Endocrinology and Metabolism, 2022

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
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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."