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Journal of Medical Genetics, ISSN 0022-2593, 2018, Volume 56, Issue 5, p. 332
Putative nucleotidyltransferase MAB21L1 is a member of an evolutionarily well-conserved family of the male abnormal 21 (MAB21)-like proteins. Little is known... 
corneal dystrophy | Cerebello-Oculo-Facio-genital (COFG) syndrome | MAB21L1 | pontocerebellar hypoplasia | scrotal/labial aplasia
Journal Article
Web Resource
Nature, ISSN 0028-0836, 09/2010, Volume 467, Issue 7312, pp. 207 - 210
Journal Article
Journal of Clinical Research in Pediatric Endocrinology, ISSN 1308-5727, 06/2017, Volume 9, Issue 1, p. 10
H syndrome (OMIM # 602782), first described in 2008, is a rare autosomal recessive genodermatosis which is multisystemic and is primarily characterized by... 
Hyperglycemia | Diabetes | Mutation | Hearing impairment
Journal Article
Journal of Child Neurology, ISSN 0883-0738, 08/2010, Volume 25, Issue 8, pp. 1003 - 1005
Sjoegren-Larsson syndrome is an autosomal-recessive hereditary disorder involving congenital ichthyosis, mental retardation, and spastic diplegia or... 
Journal Article
Journal Article
Nature Genetics, ISSN 1061-4036, 06/2011, Volume 43, Issue 6, pp. 590 - 594
Journal Article
Interactive CardioVascular and Thoracic Surgery, ISSN 1569-9293, 01/2010, Volume 11, Issue 6, pp. 779 - 783
Atrial fibrillation (AF) is a consequence of a complex interplay of genetic, epigenetic and environmental factors. In addition, AF is a major contributor to... 
Journal Article
Science, ISSN 0036-8075, 3/2013, Volume 339, Issue 6123, pp. 1077 - 1080
Journal Article
Nature Genetics, ISSN 1061-4036, 08/2018, Volume 50, Issue 8, p. 1093
Biallelic truncating mutations in CTNNA2, encoding [alpha]N-catenin, cause a new pachygyria syndrome associated with actin regulation and ARP2 and ARP3... 
Research | Neurons | Cell migration | Cell adhesion molecules
Journal Article
Cell, ISSN 0092-8674, 12/2016, Volume 167, Issue 6, pp. 1481 - 1494.e18
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 10/2016, Volume 99, Issue 4, pp. 912 - 916
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2016, Volume 99, Issue 5, pp. 1181 - 1189
Journal Article
Cell, ISSN 0092-8674, 04/2014, Volume 157, Issue 3, pp. 651 - 663
Journal Article
Current Opinion in Biotechnology, ISSN 0958-1669, 2011, Volume 22, pp. S29 - S29
Journal Article
Journal Article