Varaico: Literature-Extracted Genetic Variants

Gene:COL8A1
Variant:p.N682D
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COL8A1

NM_020351.4:p.N682D

Associated Papers

Genetic variants in patients with multiple arterial aneurysms.

Körfer D et al.

Langenbeck's Archives of Surgery, 2024

39382597 (PubMed )
Supplement: 423_2024_3488_MOESM2_ESM.xlsx › Supplemental_Table_2

Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions.

Park H et al.

Acta Neuropathologica Communications, 2022

35246273 (PubMed )
Supplement: 40478_2022_1333_MOESM3_ESM.xlsx › Exome_summary

Idelalisib sensitivity and mechanisms of disease progression in relapsed TCF3-PBX1 acute lymphoblastic leukemia.

Eldfors S et al.

Leukemia, 2017

27461063 (PubMed )
Supplement: leu2016202x3.xlsx › S5_Somatic_mutations
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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."