KEGG   VARIANT: 3479v1
Entry
3479v1                      Variant                                

Name
IGF1 mutation
Gene
IGF1  insulin like growth factor 1 [KO:K05459]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 147440
Reference
  Authors
Shaheen R, Faqeih E, Ansari S, Abdel-Salam G, Al-Hassnan ZN, Al-Shidi T, Alomar R, Sogaty S, Alkuraya FS
  Title
Genomic analysis of primordial dwarfism reveals novel disease genes.
  Journal
Genome Res 24:291-9 (2014)
DOI:10.1101/gr.160572.113
Reference
  Authors
Walenkamp MJ, Karperien M, Pereira AM, Hilhorst-Hofstee Y, van Doorn J, Chen JW, Mohan S, Denley A, Forbes B, van Duyvenvoorde HA, van Thiel SW, Sluimers CA, Bax JJ, de Laat JA, Breuning MB, Romijn JA, Wit JM
  Title
Homozygous and heterozygous expression of a novel insulin-like growth factor-I mutation.
  Journal
J Clin Endocrinol Metab 90:2855-64 (2005)
DOI:10.1210/jc.2004-1254
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