Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy (Q29144906)
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Language | Label | Description | Also known as |
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English | Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy |
scientific journal article |
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Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy (English)
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Christina Chakarova
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Mirjana Becker
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Eva Lenassi
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Gavin Arno
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Monkol Lek
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UCL-Exomes Consortium
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Uwe Wolfrum
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Daniel G MacArthur
Shomi S Bhattacharya
Anthony T Moore
Graham E Holder
Andrew R Webster
1 May 2014
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94
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5
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