Varaico: Literature-Extracted Genetic Variants

Gene:LSG1
Variant:p.R347W
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LSG1

NM_018385.3:p.R347W

Associated Papers

Clinical characteristics and genetic analysis of a case of a patient with familial hereditary breast cancer: a case report.

Liu Y et al.

Journal of Medical Case Reports, 2024

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1652.584
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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."