Varaico: Literature-Extracted Genetic Variants

Gene:TFCP2L1
Variant:p.R43C
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TFCP2L1

NM_014553.3:p.R43C

Associated Papers

Population-specific putative causal variants shape quantitative traits.

Koyama S et al.

Nature Genetics, 2024

39363016 (PubMed )
Supplement: 41588_2024_1913_MOESM3_ESM.xlsx › ST4_GWAS_Loci_BBJ_NCGG_ToMMo

Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.

Yang N et al.

Bmc Pediatrics, 2024

38310242 (PubMed )
Supplement: 12887_2024_4553_MOESM1_ESM.xlsx › trio.hg38.filter

Coding Variants Coupled With Rapid Modeling in Zebrafish Implicate Dynein Genes, dnaaf1 and zmynd10, as Adolescent Idiopathic Scoliosis Candidate Genes.

Wang Y et al.

Frontiers in Cell and Developmental Biology, 2020

33251213 (PubMed )
Supplement: Data_Sheet_1.XLSX › S5.Clinical_SNVs
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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."