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Growth failure v0.288 | SPRTN | Zornitza Stark Marked gene: SPRTN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure v0.288 | SPRTN | Zornitza Stark Gene: sprtn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure v0.288 | SPRTN | Zornitza Stark Classified gene: SPRTN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure v0.288 | SPRTN | Zornitza Stark Gene: sprtn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure v0.287 | SPRTN |
Zornitza Stark gene: SPRTN was added gene: SPRTN was added to Growth failure in early childhood. Sources: Expert Review Mode of inheritance for gene: SPRTN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPRTN were set to 25261934 Phenotypes for gene: SPRTN were set to Ruijs-Aalfs syndrome, MIM# 616200; MONDO:0014527 Review for gene: SPRTN was set to GREEN Added comment: Two families with functional evidence for a DNA repair disorder; progeroid features and hepatocellular carcinoma reported as key features, as is short stature. Sources: Expert Review |