Varaico: Literature-Extracted Genetic Variants

Gene:SMARCE1
Variant:p.G360D
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SMARCE1

NM_003079.5:p.G360D

Associated Papers

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_11

Correction: Candidate variants in DNA replication and repair genes in early-onset renal cell carcinoma patients referred for germline testing.

Demidova EV et al.

Bmc Genomics, 2023

37430226 (PubMed )
Supplement: 12864_2023_9486_MOESM1_ESM.xlsx › Supplementary_Table_2

Candidate variants in DNA replication and repair genes in early-onset renal cell carcinoma patients referred for germline testing.

Demidova EV et al.

Bmc Genomics, 2023

37095444 (PubMed )
Supplement: 12864_2023_9310_MOESM1_ESM.zip › Supplementary_Table.1_and_2.xlsx › Supplementary_Table_2

Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.

Byrjalsen A et al.

Plos Genetics, 2020

33332384 (PubMed )
Supplement: pgen.1009231.s001.xlsx › VUS

Identification of MicroRNA-Related Tumorigenesis Variants and Genes in the Cancer Genome Atlas (TCGA) Data.

Li C et al.

Genes, 2020

32824926 (PubMed )
Supplement: genes-11-00953-s001.zip › Table_S4.xlsx › Sheet1

The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.

Vandeweyer G et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2014

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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."