Empirically downgrading 10 constitutional missense variants of the NF1 gene based on co-existing truncating variants
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Empirically downgrading 10 constitutional missense variants of the NF1 gene based on co-existing truncating variants. / Kluwe, Lan; Mautner, Victor F.
in: AM J MED GENET A, Jahrgang 185, Nr. 2, 02.2021, S. 602-603.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › Andere (Vorworte u.ä.) › Forschung
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TY - JOUR
T1 - Empirically downgrading 10 constitutional missense variants of the NF1 gene based on co-existing truncating variants
AU - Kluwe, Lan
AU - Mautner, Victor F
PY - 2021/2
Y1 - 2021/2
U2 - 10.1002/ajmg.a.61976
DO - 10.1002/ajmg.a.61976
M3 - Other (editorial matter etc.)
C2 - 33231931
VL - 185
SP - 602
EP - 603
JO - AM J MED GENET A
JF - AM J MED GENET A
SN - 1552-4825
IS - 2
ER -