Inherited CHST11/MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease.
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Bioinformatics Workflow for Clinical Whole Genome Sequencing at Partners HealthCare Personalized Medicine.Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia.An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery
P2860
Inherited CHST11/MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease.
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2015年の論文
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2015年論文
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name
Inherited CHST11/MIR3922 delet ...... t lymphoproliferative disease.
@ast
Inherited CHST11/MIR3922 delet ...... t lymphoproliferative disease.
@en
type
label
Inherited CHST11/MIR3922 delet ...... t lymphoproliferative disease.
@ast
Inherited CHST11/MIR3922 delet ...... t lymphoproliferative disease.
@en
prefLabel
Inherited CHST11/MIR3922 delet ...... t lymphoproliferative disease.
@ast
Inherited CHST11/MIR3922 delet ...... t lymphoproliferative disease.
@en
P2093
P2860
P356
P1476
Inherited CHST11/MIR3922 delet ...... t lymphoproliferative disease.
@en
P2093
Chengsheng Zhang
Christopher A Cassa
Dana Vuzman
Hatice Duzkale
Heather McLaughlin
Heidi Rehm
Ignaty Leshchiner
Joyce Fingeroth
Michael Murray
Monica Giovanni
P2860
P304
P356
10.1002/MGG3.152
P577
2015-05-10T00:00:00Z