Varaico: Literature-Extracted Genetic Variants

Gene:COL17A1
Variant:p.N1374D
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COL17A1

NM_000494.4:p.N1374D

Associated Papers

Whole exome sequencing study of adamantinomatous craniopharyngioma reveals the mutational characteristics of recurrent cases.

Chen D et al.

Journal of Neuro-oncology, 2025

40731085 (PubMed )
Supplement: 11060_2025_5061_MOESM6_ESM.pdf

Whole exome sequencing implicates PTCH1 and COL17A1 genes in ossification of the posterior longitudinal ligament of the cervical spine in Chinese patients.

Wei W et al.

Genetics and Molecular Research : Gmr, 2014

Precision medicine using whole genome sequencing in a cat identifies a novel COL5A1 variant for classical Ehlers-Danlos syndrome.

McElroy A et al.

Journal of Veterinary Internal Medicine, 0

37594181 (PubMed )
Supplement: JVIM-37-1716-s005.xlsx › ST2C-clinvar_COL17A1
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