The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge–Weber syndrome - Concepedia

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The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge–Weber syndrome

138

Citations

11

References

2014

Year

Mitsuko Nakashima, Masakazu Miyajima, Hidenori Sugano, Yasushi Iimura, Mitsuhiro Kato, Yoshinori Tsurusaki, Noriko Miyake, Hirotomo Saitsu, Hajime Arai, Naomichi Matsumoto

Journal of Human Genetics

BiologySturge–weber SyndromeSomatic VariantGenetic DisorderNatural SciencesGeneticsInherited Metabolic DiseaseMolecular BiologyMolecular GeneticsDisease Gene IdentificationGenomicsMedicine

References

	Year	Citations

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