F8 c.2904A>C ;(p.E968D)

Variant ID: X-154159161-T-G

NM_000132.3(F8):c.2904A>C;(p.E968D)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Retinal disease course in Usher syndrome 1B due to MYO7A mutations.

Investigative Ophthalmology & Visual Science
Jacobson, Samuel G SG; Cideciyan, Artur V AV; Gibbs, Dan D; Sumaroka, Alexander A; Roman, Alejandro J AJ; Aleman, Tomas S TS; Schwartz, Sharon B SB; Olivares, Melani B MB; Russell, Robert C RC; Steinberg, Janet D JD; Kenna, Margaret A MA; Kimberling, William J WJ; Rehm, Heidi L HL; Williams, David S DS
Publication Date: 2011-10-07

Variant appearance in text: F8: E968D
PubMed Link: 21873662
Variant Present in the following documents:
  • Main text
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