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Evidence for a low‐penetrant extended phenotype of rhabdoid tumor predisposition syndrome type 1 from a kindred with gain of SMARCB1 exon 6
Author(s) -
Kordes Uwe,
Mautner VictorFelix,
Oyen Florian,
Hagel Christian,
Hartmann Christian,
Heuser Michael,
Frühwald Michael,
Hasselblatt Martin,
OehlHuber Kathrin,
Siebert Reiner,
Schneppenheim Reinhard,
Schüller Ulrich
Publication year - 2021
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.29185
Subject(s) - penetrant (biochemical) , phenotype , exon , medicine , genetics , computational biology , gene , biology , microbiology and biotechnology
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