C1QBP c.198C>A ;(p.A66=)

Variant ID: 17-5342196-G-T

NM_001212.3(C1QBP):c.198C>A;(p.A66=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


The IC3D classification of the corneal dystrophies.

Cornea
Weiss, Jayne S JS; Møller, H U HU; Lisch, Walter W; Kinoshita, Shigeru S; Aldave, Anthony J AJ; Belin, Michael W MW; Kivelä, Tero T; Busin, Massimo M; Munier, Francis L FL; Seitz, Berthold B; Sutphin, John J; Bredrup, Cecilie C; Mannis, Mark J MJ; Rapuano, Christopher J CJ; Van Rij, Gabriel G; Kim, Eung Kweon EK; Klintworth, Gordon K GK
Publication Date: 2008-12

Variant appearance in text: p32: 198C>A
PubMed Link: 19337156
Variant Present in the following documents:
  • Main text
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