Varaico: Literature-Extracted Genetic Variants

Gene:SHOC2
Variant:p.Q269R
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SHOC2

NM_007373.4:p.Q269R

Associated Papers

Structural insights into the role of SHOC2-MRAS-PP1C complex in RAF activation.

Bonsor DA et al.

The Febs Journal, 2023

Structure-function analysis of the SHOC2-MRAS-PP1C holophosphatase complex.

Kwon JJ et al.

Nature, 2022

Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome.

Motta M et al.

Human Molecular Genetics, 2022

Case report: A de novo RASopathy-causing SHOC2 variant in a Chinese girl with noonan syndrome-like with loose anagen hair.

Wang Q et al.

Frontiers in Genetics, 2022

Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.

Hathaway J et al.

Bmc Cardiovascular Disorders, 2021

33673806 (PubMed )
Supplement: 12872_2021_1927_MOESM2_ESM.xlsx › Sheet1
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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."