Varaico: Literature-Extracted Genetic Variants

Gene:SGCG
Variant:p.L194insFs
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SGCG

NM_000231.3:p.L194insFs

Associated Papers

Neurobehavioral characteristics of mice with SETD5 mutations as models of IDD23 and KBG syndromes.

Nakagawa T et al.

Frontiers in Genetics, 2022

36685966 (PubMed )
Supplement: Table1.XLSX › Sheet1

Revised spectrum of mutations in sarcoglycanopathies.

Trabelsi M et al.

European Journal of Human Genetics : Ejhg, 2008

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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."