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Medientyp
- Text 2
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Erscheinungsjahr
Autor/in
- Gripp, Karen W 2
- Sol-Church, Katia
- Stabley, Deborah L 2
- Baker, Laura C 1
- Bifeld, Eugenia 1
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Sprache
- Englisch 2
2 Einträge gefunden
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An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences
- Gripp, Karen W
- Sol-Church, Katia
- Smpokou, Patroula
- Graham, Gail E
- Stevenson, David A
- Hanson, Heather
- Viskochil, David H
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A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development.
- Gripp, Karen W
- Bifeld, Eugenia
- Stabley, Deborah L
- Hopkins, Elizabeth
- Meien, Stefanie
- Vinette, Kathy
- Sol-Church, Katia