Varaico: Literature-Extracted Genetic Variants

Gene:PRAMEF13
Variant:p.N426S
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PRAMEF13

NM_001291380.1:p.N426S

Associated Papers

RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis.

Wong S et al.

Embo Molecular Medicine, 2023

37066513 (PubMed )
Supplement: EMMM-15-e17078-s005.xlsx › Homozygous

A new tumorgraft panel to accelerate precision medicine in prostate cancer.

Béraud C et al.

Frontiers in Oncology, 2023

37305585 (PubMed )
Supplement: Table_5.xlsx › Variants

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 › HL2
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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."