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Empirically downgrading 10 constitutional missense variants of the NF1 gene based on co‐existing truncating variants
Author(s) -
Kluwe Lan,
Mautner Victor F.
Publication year - 2021
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61976
Subject(s) - missense mutation , frameshift mutation , genetics , exon , biology , gene , nonsense , sanger sequencing , mutation
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