Varaico: Literature-Extracted Genetic Variants

Gene:SHLD1
Variant:p.R143C
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SHLD1

NM_152504.4:p.R143C

Associated Papers

The landscape of rare genetic variants in familial Waldenström macroglobulinemia.

Pemov A et al.

Blood Neoplasia, 2024

39036705 (PubMed )
Supplement: BNEO_NEO-2023-000111-mmc8.xlsx › Supplementary_Table_7C

NCOA3 identified as a new candidate to explain autosomal dominant progressive hearing loss.

Salazar-Silva R et al.

Human Molecular Genetics, 2021

33326993 (PubMed )
Supplement: supplementary_material_figure_legends_and_supplementary_tables_ddaa240.doc

Mutational landscape of mucinous ovarian carcinoma and its neoplastic precursors.

Ryland GL et al.

Genome Medicine, 2015

26257827 (PubMed )
Supplement: 13073_2015_210_MOESM1_ESM.xlsx › Table_S3
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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."