Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.R576Q
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SMO

NM_005631.5:p.R576Q

Associated Papers

A Novel Variant in the Cyto-Tail of SMO Gene Underlying Isolated Postaxial Polydactyly.

Javed Khan M et al.

Molecular Syndromology, 2024

Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals.

Aubert-Mucca M et al.

Journal of Medical Genetics, 2023

Metastatic Colorectal Cancer Treatment Response Evaluation by Ultra-Deep Sequencing of Cell-Free DNA and Matched White Blood Cells.

van 't Erve I et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023

36534496 (PubMed )
Supplement: ccr-22-2538_supplementary_tables_s1-s15_suppts1-ts15.xlsx › ST10

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Pritchard AL et al.

Plos One, 2018

29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › UK10K_TSG
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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."