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PDE11A c.1655_1657delinsCC ;(p.I552Tfs*16)
Variant ID: 2-178681636-AGA-GG
NM_016953.3(
PDE11A
):c.1655_1657delinsCC;(p.I552Tfs*16)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
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dbSNP
Publications:
New genes and/or molecular pathways associated with adrenal hyperplasias and related adrenocortical tumors.
Molecular And Cellular Endocrinology
Stratakis, Constantine A CA
Publication Date: 2009-03-05
Variant appearance in text: PDE11A: 1655_1657delTCTinsCC
PubMed Link:
19063937
Variant Present in the following documents:
Main text
View BVdb publication page
Phosphodiesterase 11A expression in the adrenal cortex, primary pigmented nodular adrenocortical disease, and other corticotropin-independent lesions.
Hormone And Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme
Boikos, S A SA; Horvath, A A; Heyerdahl, S S; Stein, E E; Robinson-White, A A; Bossis, I I; Bertherat, J J; Carney, J A JA; Stratakis, C A CA
Publication Date: 2008-05
Variant appearance in text: PDE11A: 1655_1657delTCTinsCC
PubMed Link:
18491255
Variant Present in the following documents:
Main text
View BVdb publication page