Extremely hypomorphic and severe deep intronic variants in...

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Molecular Case Studies 2018 / 05

Extremely hypomorphic and severe deep intronic variants in the ABCA4 locus result in varying Stargardt disease phenotypes

Zernant, Jana, Lee, Winston, Nagasaki, Takayuki, Collison, Frederick T, Fishman, Gerald A., Bertelsen, Mette, Rosenberg, Thomas, Gouras, Peter, Tsang, Stephen H., Allikmets, Rando
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Language:
english
Journal:
Molecular Case Studies
DOI:
10.1101/mcs.a002733
Date:
May, 2018
File:
PDF, 7.43 MB
english, 2018
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