ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

Authors :: Bauwens, Miriam
Garanto, A.
Sangermano, R.
Naessens, Sarah
Weisschuh, Nicole
Zaeytijd, Julie De
Khan, M.
Collin, R.W.J.
Cremers, F.P.M.
Leroy, Bart P.
Baere, Elfride De
Bauwens, Miriam
Garanto, A.
Sangermano, R.
Naessens, Sarah
Weisschuh, Nicole
Zaeytijd, Julie De
Khan, M.
Collin, R.W.J.
Cremers, F.P.M.
Leroy, Bart P.
Baere, Elfride De
Source :: Genetics in Medicine; 1761; 1771; 1098-3600; 8; 21; ~Genetics in Medicine~1761~1771~~~1098-3600~8~21~~
Publication Year :: 2019
Abstract: Contains fulltext : 206085.pdf (publisher's version ) (Open Access)

Database :: OAIster
Journal :: Genetics in Medicine; 1761; 1771; 1098-3600; 8; 21; ~Genetics in Medicine~1761~1771~~~1098-3600~8~21~~
Publication Type :: Electronic Resource
Accession number :: edsoai.on1284092189
Document Type :: Electronic Resource

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