Varaico: Literature-Extracted Genetic Variants

Gene:COL5A1
Variant:p.A1086V
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COL5A1

NM_000093.5:p.A1086V

Associated Papers

Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome.

Weerakkody RA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016

Exome and deep sequencing of clinically aggressive neuroblastoma reveal somatic mutations that affect key pathways involved in cancer progression.

Lasorsa VA et al.

Oncotarget, 2016

27009842 (PubMed )
Supplement: oncotarget-07-21840-s004.xlsx › Supplementary_Table_3a

Combined DNA Analysis from Stool and Blood Samples Improves Tumor Tracking and Assessment of Clonal Heterogeneity in Localized Rectal Cancer Patients.

Parigger T et al.

Technology in Cancer Research & Treatment, 0

38766867 (PubMed )
Supplement: sj-xlsx-1-tct-10.1177_15330338241252706.xlsx › biopsy_mutations
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