ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants
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Published:2019-08
Issue:8
Volume:21
Page:1761-1771
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ISSN:1098-3600
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Container-title:Genetics in Medicine
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language:en
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Short-container-title:Genetics in Medicine
Author:
Bauwens MiriamORCID,
Garanto Alejandro,
Sangermano Riccardo,
Naessens Sarah,
Weisschuh Nicole,
De Zaeytijd Julie,
Khan Mubeen,
Sadler Françoise,
Balikova Irina,
Van Cauwenbergh Caroline,
Rosseel Toon,
Bauwens Jim,
De Leeneer Kim,
De Jaegere Sarah,
Van Laethem Thalia,
De Vries Meindert,
Carss Keren,
Arno Gavin,
Fakin Ana,
Webster Andrew R.,
de Ravel de l’Argentière Thomy J.L.,
Sznajer Yves,
Vuylsteke Marnik,
Kohl Susanne,
Wissinger Bernd,
Cherry Timothy,
Collin Rob W.J.,
Cremers Frans P.M.,
Leroy Bart P.,
De Baere Elfride
Subject
Genetics (clinical)
Cited by
125 articles.
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