F2 c.214G>C ;(p.E72Q)

Variant ID: 11-46741386-G-C

NM_000506.3(F2):c.214G>C;(p.E72Q)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Clinical manifestation and genetic analysis in Chinese early onset X-linked retinoschisis.

Molecular Genetics & Genomic Medicine
Huang, Li L; Sun, Limei L; Wang, Zhirong Z; Chen, Chonglin C; Wang, Panfeng P; Sun, Wenmin W; Luo, Xiaoling X; Ding, Xiaoyan X
Publication Date: 2020-10

Variant appearance in text: F2: 214G>C; Glu72Gln
PubMed Link: 33460243
Variant Present in the following documents:
  • Main text
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