VWF c.292G>A ;(p.V98I)

Variant ID: 12-6220063-C-T

NM_000552.3(VWF):c.292G>A;(p.V98I)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing: An Interim Report of the Genomic Medicine for Ill Neonates and Infants (GEMINI) Study.

Jama Pediatrics
Maron, Jill L JL; Kingsmore, Stephen F SF; Wigby, Kristen K; Chowdhury, Shimul S; Dimmock, David D; Poindexter, Brenda B; Suhrie, Kristen K; Vockley, Jerry J; Diacovo, Thomas T; Gelb, Bruce D BD; Stroustrup, Annemarie A; Powell, Cynthia M CM; Trembath, Andrea A; Gallen, Matthew M; Mullen, Thomas E TE; Tanpaiboon, Pranoot P; Reed, Dallas D; Kurfiss, Anne A; Davis, Jonathan M JM
Publication Date: 2021-05-01

Variant appearance in text: VWF: 292G>A; Val98Met
PubMed Link: 33587123
Variant Present in the following documents:
  • Main text
View BVdb publication page