Varaico: Literature-Extracted Genetic Variants

Gene:SGSM1
Variant:p.R588T
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SGSM1

NM_001098497.3:p.R588T

Associated Papers

Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome.

Codina-Sola M et al.

Journal of Medical Genetics, 2019

31413120 (PubMed )
Supplement: jmedgenet-2019-106080supp001.pdf

Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Cereda M et al.

Nature Communications, 2016

27377421 (PubMed )
Supplement: ncomms12072-s6.xlsx › Supplementary_Data_5
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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."