F8 c.2186del ;(p.S729Ifs*22)

Variant ID: X-154159879-AC-A

NM_000132.3(F8):c.2186del;(p.S729Ifs*22)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Spectrum of Molecular Defects in 216 Chinese Families With Hemophilia A: Identification of Noninversion Mutation Hot Spots and 42 Novel Mutations.

Clinical And Applied Thrombosis/Hemostasis : Official Journal Of The International Academy Of Clinical And Applied Thrombosis/Hemostasis
Guo, Zhiping Z; Yang, Linhua L; Qin, Xiuyu X; Liu, Xiue X; Zhang, Yaofang Y
Publication Date: 2018-01

Variant appearance in text: FVIII: 2186delG
PubMed Link: 28056528
Variant Present in the following documents:
  • Main text
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