F8 c.2215G>C ;(p.E739Q)

Variant ID: X-154159850-C-G

NM_000132.3(F8):c.2215G>C;(p.E739Q)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.

Human Molecular Genetics
Bodian, Dale L DL; Chan, Ting-Fung TF; Poon, Annie A; Schwarze, Ulrike U; Yang, Kathleen K; Byers, Peter H PH; Kwok, Pui-Yan PY; Klein, Teri E TE
Publication Date: 2009-02-01

Variant appearance in text: F8: 2215G>C
PubMed Link: 18996919
Variant Present in the following documents:
  • Main text
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