Varaico: Literature-Extracted Genetic Variants

Gene:COL3A1
Variant:p.R1363*
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COL3A1

NM_000090.4:p.R1363*

Associated Papers

Pathogenic variants in arteriopathy genes detected in a targeted sequencing study: Penetrance and 1-year outcomes after return of results.

Sherafati A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022

Penetrance and outcomes at 1-year following return of actionable variants identified by genome sequencing.

Lee C et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33824501 (PubMed )
Supplement: NIHMS1700422-supplement-Supplementary___Appendix__online_only_material__etc___2.pdf

Frequency of genomic secondary findings among 21,915 eMERGE network participants.

Unknown Author

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32546831 (PubMed )
Supplement: NIHMS1615423-supplement-Supplementary_Table_2.xlsx › Sheet1
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