COL4A5 c.3970_3972delinsAGC ;(p.G1324S)

Variant ID: X-107923936-GGA-AGC

NM_033380.2(COL4A5):c.3970_3972delinsAGC;(p.G1324S)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Misfolding of vWF to pathologically disordered conformations impacts the severity of von Willebrand disease.

Biophysical Journal
Tischer, Alexander A; Madde, Pranathi P; Moon-Tasson, Laurie L; Auton, Matthew M
Publication Date: 2014-09-02

Variant appearance in text: ATS: G1324S
PubMed Link: 25185554
Variant Present in the following documents:
  • Main text
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