Literature summary for 3.4.24.84 extracted from

Smigiel, R.; Jakubiak, A.; Esteves-Vieira, V.; Szela, K.; Halon, A.; Jurek, T.; Levy, N.; De Sandre-Giovannoli, A.
Novel frameshifting mutations of the ZMPSTE24 gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature (2010), Am. J. Med. Genet. A, 152A, 447-452.

Search for more literature for 3.4.24.84

Application

Application	Comment	Organism
medicine	identification of compound heterozygous frameshifting mutations in exon 1, c.50delA, and exon 5, c.584_585delAT of the ZMPSTE24 gene in two brothers affected with restrictive dermopathy, who died in the neonatal period. Both deletions are frameshifting and are predicted to cause the appearance of premature termination codons	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
additional information	identification of compound heterozygous frameshifting mutations in exon 1, c.50delA, and exon 5, c.584_585delAT of the ZMPSTE24 gene in two brothers affected with restrictive dermopathy, who died in the neonatal period. Both deletions are frameshifting and are predicted to cause the appearance of premature termination codons	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

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Release 2023.1 (January 2023)