Varaico: Literature-Extracted Genetic Variants

Gene:ATP2B2
Variant:p.V474I
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ATP2B2

NM_001683.5:p.V474I

Associated Papers

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HPK7_het

Exome sequencing in families with chronic central serous chorioretinopathy.

Schellevis RL et al.

Molecular Genetics & Genomic Medicine, 2019

Human primary liver cancer-derived organoid cultures for disease modeling and drug screening.

Broutier L et al.

Nature Medicine, 2017

29131160 (PubMed )
Supplement: NIHMS74480-supplement-Supplementary_Dataset_4.xlsx › S3_HCC-3_coding_SNVs

MUG-Mel2, a novel highly pigmented and well characterized NRAS mutated human melanoma cell line.

Rinner B et al.

Scientific Reports, 2017

28522871 (PubMed )
Supplement: 41598_2017_2197_MOESM1_ESM.pdf

Integrated genomic analyses of de novo pathways underlying atypical meningiomas.

Harmancı AS et al.

Nature Communications, 2017

28195122 (PubMed )
Supplement: ncomms14433-s3.xlsx › Table_S2D

The New Immortalized Uroepithelial Cell Line HBLAK Contains Defined Genetic Aberrations Typical of Early Stage Urothelial Tumors.

Hoffmann MJ et al.

Bladder Cancer (amsterdam, Netherlands), 2016

28035326 (PubMed )
Supplement: blc-2-blc160065-s001.xlsx › 2_HBLAK_relevant_SNPs

Very Long-term Survival Following Resection for Pancreatic Cancer Is Not Explained by Commonly Mutated Genes: Results of Whole-Exome Sequencing Analysis.

Dal Molin M et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2015

25623214 (PubMed )
Supplement: 10780432ccr142600-sup-138373_1_supp_2787887_ng4417.xlsx › Sheet1
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