Varaico: Literature-Extracted Genetic Variants

Gene:PRAMEF1
Variant:p.A257T
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PRAMEF1

NM_023013.4:p.A257T

Associated Papers

Tumor microenvironment-preserving gliosarcoma organoids as an in vitro preclinical platform: a comparative analysis with glioblastoma models.

Park J et al.

Journal of Translational Medicine, 2025

40813987 (PubMed )
Supplement: 12967_2025_6952_MOESM2_ESM.xlsx › GS22-01

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Zhou Y et al.

Bmc Medical Genetics, 2020

32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL3

Early Onset of Combined Oxidative Phosphorylation Deficiency in Two Chinese Brothers Caused by a Homozygous (Leu275Phe) Mutation in the C1QBP Gene.

Wang J et al.

Frontiers in Pediatrics, 2020

33344382 (PubMed )
Supplement: Table_2.XLSX › Result

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 › S7_CHC-2_coding_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."