VWF c.1686del ;(p.Q563Rfs*14)

Variant ID: 12-6167058-GC-G

NM_000552.3(VWF):c.1686del;(p.Q563Rfs*14)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Two novel ITGA2B mutations in a Glanzmann thrombasthaenia family associated with different platelet phenotypic expression.

Blood Transfusion = Trasfusione Del Sangue
Daidone, Viviana V; Bury, Loredana L; Milan, Marta M; Galletta, Eva E; Gresele, Paolo P; Casonato, Alessandra A
Publication Date: 2017-09

Variant appearance in text: VWF: 1686delG
PubMed Link: 27416581
Variant Present in the following documents:
  • Main text
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