Varaico: Literature-Extracted Genetic Variants

Gene:SHOC2
Variant:p.M173V
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SHOC2

NM_007373.4:p.M173V

Associated Papers

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

Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.

Schon KR et al.

Bmj (clinical Research Ed.), 2021

34732400 (PubMed )
Supplement: schk066288.ww2.xlsx › Variants
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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."