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The American Journal of Human Genetics, ISSN 0002-9297, 06/2013, Volume 92, Issue 6, pp. 935 - 945
Journal Article
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2017, Volume 100, Issue 2, pp. 216 - 227
Journal Article
HUMAN MOLECULAR GENETICS, ISSN 0964-6906, 06/2019, Volume 28, Issue 11, pp. 1853 - 1864
The Ehlers-Danlos syndromes (EDSs) are a clinically and molecularly diverse group of heritable connective tissue disorders caused by defects in a wide range of... 
PLATFORM | LUNG | SEQUENCE VARIANTS | CARBOXYPEPTIDASE-LIKE PROTEIN | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY
Journal Article
Genetics in Medicine, ISSN 1098-3600, 07/2019
PURPOSETo date, heterozygous or homozygous COL12A1 variants have been reported in 13 patients presenting with a clinical phenotype overlapping with collagen... 
Journal Article
PLoS ONE, ISSN 1932-6203, 2011, Volume 6, Issue 5, pp. e20121 - e20121
Journal Article