Varaico: Literature-Extracted Genetic Variants

Gene:GSAP
Variant:p.H47R
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GSAP

NM_017439.4:p.H47R

Associated Papers

Characterization of prevalent genetic variants in the Estonian Biobank body-mass index GWAS.

Abner E et al.

Nature Communications, 2025

41062462 (PubMed )
Supplement: 41467_2025_64006_MOESM6_ESM.xlsx › Figure1a

Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.

Kuras M et al.

Cancers, 2025

40075679 (PubMed )
Supplement: cancers-17-00832-s001.zip › Table_S5._SAAVs.xlsx › Table_S5A

HAPLN3 p.T34A contributes to incomplete penetrance of moyamoya disease in Chinese carrying RNF213 p.R4810K.

Xu J et al.

European Journal of Neurology, 2024

39315749 (PubMed )
Supplement: ENE-31-e16473-s001.xlsx › Table_S2

Whole-Exome Sequencing Characterized the Landscape of Somatic Mutations and Pathways in Colorectal Cancer Liver Metastasis.

Feng L et al.

Journal of Oncology, 2019

31814826 (PubMed )
Supplement: 2684075.f1.zip › 2684075.f1 › Supplemental_Table_2.xlsx › Sheet1

Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology.

Ferreira MA et al.

Nature Genetics, 2017

29083406 (PubMed )
Supplement: NIHMS74439-supplement-Supplementary_tables.xlsx › ST12

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A06O-01A.domain
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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."