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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 2 (of 2 Records)

Query Trace: Counseling and PRKAR1A[original query]
Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes.
The Journal of clinical endocrinology and metabolism 2009 Jun 94 (6): 2085-91.
Bertherat Jérôme, Horvath Anélia, Groussin Lionel, Grabar Sophie, Boikos Sosipatros, Cazabat Laure, Libe Rosella, René-Corail Fernande, Stergiopoulos Sotirios, Bourdeau Isabelle, Bei Thalia, Clauser Eric, Calender Alain, Kirschner Lawrence S, Bertagna Xavier, Carney J Aidan, Stratakis Constantine
A novel splice site mutation of the PRKAR1A gene, C.440+5 G>C, in a Chinese family with Carney complex.
Journal of endocrinological investigation 2018 1 41 (8): 909-917.
Fu J, Lai F, Chen Y, Wan X, Wei G, Li Y, Xiao H, Cao
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