Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
COL13A1 Collagen type XIII alpha 1 chain       | 10q22.1 | * Congenital myasthenic syndrome type 19 - CMS19 (11.27) |
This table has been prepared by Dr Gisèle Bonne * - PhD and by Pr. François Rivier ** - MD, PhD
This website is developed and maintained by Dalil Hamroun** - PhD
* Sorbonne Université-Inserm, Centre of Research in Myology , Paris, France.
** Chu de Montpellier, Montpellier. France.
GT_NMD 2024 (updated 17/01/2024)
Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
COL13A1 Collagen type XIII alpha 1 chain | 10q22.1 | * Congenital myasthenic syndrome type 19 - CMS19 (11.27) |