Varaico: Literature-Extracted Genetic Variants

Gene:COL4A1
Variant:p.R674S
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COL4A1

NM_001845.6:p.R674S

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 › Hets

Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (MAC) from a consanguineous population.

Islam F et al.

Clinical Genetics, 2020

Deep sequencing of uveal melanoma identifies a recurrent mutation in PLCB4.

Johansson P et al.

Oncotarget, 2016

26683228 (PubMed )
Supplement: oncotarget-07-4624-s002.xlsx › Sheet1
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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."