Varaico: Literature-Extracted Genetic Variants

Gene:SOS1
Variant:p.V48insFs
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SOS1

NM_005633.4:p.V48insFs

Associated Papers

Clinics and genetic background of hereditary gingival fibromatosis.

Strzelec K et al.

Orphanet Journal of Rare Diseases, 2021

Analysis of mutations in the SOS-1 gene in two Polish families with hereditary gingival fibromatosis.

Gawron K et al.

Oral Diseases, 2017

Non-syndromic hereditary gingival fibromatosis in three Chinese families is not due to SOS1 gene mutations.

Ma Y et al.

Cell Biochemistry and Biophysics, 2014

Germ line gain of function with SOS1 mutation in hereditary gingival fibromatosis.

Jang SI et al.

The Journal of Biological Chemistry, 2007

Characterization of fibroblasts with Son of Sevenless-1 mutation.

Lee EJ et al.

Journal of Dental Research, 2006

A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1.

Hart TC et al.

American Journal of Human Genetics, 2002

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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."