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Reply to Pubpeer anonymous contributors: incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1

Authors :
Laila El Khattabi
Fabien Guimiot
Andrée Delahaye-Duriez
Source :
European Journal of Human Genetics. 30:998-999
Publication Year :
2022
Publisher :
Springer Science and Business Media LLC, 2022.

Subjects

Subjects :
Repressor Proteins
Biological Variation, Population
Basic Helix-Loop-Helix Transcription Factors
Genetics
Humans
Penetrance
Prader-Willi Syndrome
Genetics (clinical)

Details

ISSN :
14765438 and 10184813
Volume :
30
Database :
OpenAIRE
Journal :
European Journal of Human Genetics
Accession number :
edsair.doi.dedup.....eef226c01ddcaacbbe679aeb03661786
Full Text :
https://doi.org/10.1038/s41431-022-01110-0
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