Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1
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Published:2020-12
Issue:12
Volume:22
Page:2081-2088
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ISSN:1098-3600
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Container-title:Genetics in Medicine
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language:en
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Short-container-title:Genetics in Medicine
Author:
Perez-Valencia Juan A.,
Gallon Richard,
Chen Yunjia,
Koch Jakob,
Keller Markus,
Oberhuber Klaus,
Gomes Alicia,
Zschocke Johannes,
Burn John,
Jackson Michael S.,
Santibanez-Koref Mauro,
Messiaen LudwineORCID,
Wimmer Katharina
Funder
Austrian Science Fund
Subject
Genetics (clinical)
Cited by
15 articles.
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