Literature summary for 2.7.8.17 extracted from

Voltolini Velho, R.; Harms, F.L.; Danyukova, T.; Ludwig, N.F.; Friez, M.J.; Cathey, S.S.; Filocamo, M.; Tappino, B.; G�nes, N.; T�ys�z, B.; Tylee, K.L.; Brammeier, K.L.; Heptinstall, L.; Oussoren, E.; van der Ploeg, A.T.; Petersen, C.; Alves, S.; Duran Saavedra, G.; Schwartz, I.V.; Muschol, N.; Kutsche, K.; Pohl, S.
The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma Update on GNPTAB and GNPTG mutations (2019), Hum. Mutat., 40, 842-864 .

Application

Application	Comment	Organism
medicine	mutations in the GNPTAB and GNPTG genes cause mucolipidosis type II, type III alpha/beta, and type III gamma. Report on 200 published and 58 novel GNPTAB mutations, including frameshift mutations (39%), missense mutations (26%), nonsense mutations (23%), splice defects (9%), and deletions/duplications/insertions/deletion-insertions (3%). The variants are spread throughout the gene, although 25% of the mutations are located in the 1112 bp exon 13	Homo sapiens

Organism	UniProt	Comment	Textmining
Homo sapiens	Q3T906	-	-

Synonyms	Comment	Organism
GNPTAB	-	Homo sapiens

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Release 2023.1 (January 2023)