Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.P647S
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SMO

NM_005631.5:p.P647S

Associated Papers

Targeted Re-Sequencing of Neural Tube Defects Patients and Families Identifies Rare Variants in Genes Candidate From Animal Models.

Romano F et al.

Birth Defects Research, 2025

Molecular profiling of sporadic medullary thyroid carcinomas - a next-generation sequencing-based study.

Altinay S et al.

Polish Journal of Pathology : Official Journal of the Polish Society of Pathologists, 2025

A Cohort Study of CNS Tumors in Multiple Endocrine Neoplasia Type 1.

Graillon T et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

38630553 (PubMed )
Supplement: ccr-23-3308_supplementary_table_s2_suppts2.xlsx › Feuil1

Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.

Vanni I et al.

Journal of Translational Medicine, 2024

38750555 (PubMed )
Supplement: 12967_2024_5227_MOESM15_ESM.xlsx › S15

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_15

High p16 expression and heterozygous RB1 loss are biomarkers for CDK4/6 inhibitor resistance in ER+ breast cancer.

Palafox M et al.

Nature Communications, 2022

36071033 (PubMed )
Supplement: 41467_2022_32828_MOESM4_ESM.xlsx › Fig_2A_and_Table_S4

Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

Wagener R et al.

European Journal of Human Genetics : Ejhg, 2021

33840814 (PubMed )
Supplement: 41431_2021_878_MOESM2_ESM.xlsx › Table_S3

Somatic variants of potential clinical significance in the tumors of BRCA phenocopies.

Buckingham L et al.

Hereditary Cancer in Clinical Practice, 2019

Integrated genomic analyses of de novo pathways underlying atypical meningiomas.

Harmancı AS et al.

Nature Communications, 2017

28195122 (PubMed )
Supplement: ncomms14433-s2.xlsx › Table_S1A

Genetic landscape of meningioma.

Yuzawa S et al.

Brain Tumor Pathology, 2016

Integrated analysis of germline and somatic variants in ovarian cancer.

Kanchi KL et al.

Nature Communications, 2014

24448499 (PubMed )
Supplement: NIHMS551112-supplement-14.xlsx › S_Data_13

Analysis of PTCH/SMO/SHH pathway genes in medulloblastoma.

Zurawel RH et al.

Genes, Chromosomes & Cancer, 2000

Missense mutations in SMOH in sporadic basal cell carcinomas of the skin and primitive neuroectodermal tumors of the central nervous system.

Reifenberger J et al.

Cancer Research, 1998

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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."