GC c.971dup ;(p.D325Rfs*12)

Variant ID: 4-72622491-T-TG

NM_000583.3(GC):c.971dup;(p.D325Rfs*12)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Haplotype-resolved de novo assembly of the Vero cell line genome.

Npj Vaccines
Sène, Marie-Angélique MA; Kiesslich, Sascha S; Djambazian, Haig H; Ragoussis, Jiannis J; Xia, Yu Y; Kamen, Amine A AA
Publication Date: 2021-08-20

Variant appearance in text: GC: 970dupC
PubMed Link: 34417462
Variant Present in the following documents:
  • 41541_2021_358_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype.

Cold Spring Harbor Molecular Case Studies
Zastrow, Diane B DB; Zornio, Patricia A PA; Dries, Annika A; Kohler, Jennefer J; Fernandez, Liliana L; Waggott, Daryl D; Walkiewicz, Magdalena M; Eng, Christine M CM; Manning, Melanie A MA; Farrelly, Ellyn E; , ; Fisher, Paul G PG; Ashley, Euan A EA; Bernstein, Jonathan A JA; Wheeler, Matthew T MT
Publication Date: 2017-01

Variant appearance in text: GC: 970dupC
PubMed Link: 28050602
Variant Present in the following documents:
  • supp_mcs.a001388_TableS1.xls, sheet 4
View BVdb publication page