Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.S590T
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SMO

NM_005631.5:p.S590T

Associated Papers

Genetic findings of children with congenital heart diseases using chromosomal microarray and trio-based whole exome sequencing.

Guo R et al.

Scientific Reports, 2025

40715143 (PubMed )
Supplement: 41598_2025_6977_MOESM2_ESM.xlsx › Sheet1

Association of Pathway Mutations With Survival in Taiwanese Breast Cancers.

Yang PS et al.

Frontiers in Oncology, 2022

35936696 (PubMed )
Supplement: DataSheet_1.zip › Supplementary_Table_4.xlsx › ___2

Mutational Profile and Potential Molecular Therapeutic Targets of Pheochromocytoma.

Ma X et al.

Frontiers in Endocrinology, 2022

Genetic alterations and their therapeutic implications in epithelial ovarian cancer.

Lapke N et al.

Bmc Cancer, 2021

33947352 (PubMed )
Supplement: 12885_2021_8233_MOESM5_ESM.xlsx › Additional_file_5

Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.

Zhang J et al.

Frontiers in Oncology, 2021

35087742 (PubMed )
Supplement: Table_1.xlsx › Table3_mut_frequency_v3

Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.

Green DJ et al.

Genes, 2020

32050448 (PubMed )
Supplement: genes-11-00179-s001.zip › Supplementary_File_3.xlsx › gnomAD_overlap_autosomal

Next-generation sequencing reveals somatic mutations that confer exceptional response to everolimus.

Lim SM et al.

Oncotarget, 2016

26859683 (PubMed )
Supplement: oncotarget-07-10547-s002.pdf

Smoothened gene alterations in keratocystic odontogenic tumors.

Rui Z et al.

Head & Face Medicine, 2014

Epidermal growth factor receptor-Mutated Non-small-cell Lung Cancer with Intracranial Progressions and Stable Extracranial Diseases Benefit from Osimertinib Regardless of T790M Mutational Status.

Liao J et al.

Cancer Control : Journal of the Moffitt Cancer Center, 0

35201951 (PubMed )
Supplement: sj-xlsx-6-ccx-10.1177_10732748221081360.xlsx › Genotyping_Results
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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."