Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.
about
Tip of an Iceberg: Skull Fracture as an Adult Presentation of Encephalocraniocutaneous Lipomatosis.Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort.The Use of Variant Maps to Explore Domain-Specific Mutations of FGFR1.A novel allosteric site in casein kinase 2α discovered using combining bioinformatics and biochemistry methods.Encephalocraniocutaneous lipomatosis with Wilms' tumor.Methylome analysis and whole-exome sequencing reveal that brain tumors associated with encephalocraniocutaneous lipomatosis are midline pilocytic astrocytomas
P2860
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.
@ast
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.
@en
type
label
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.
@ast
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.
@en
prefLabel
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.
@ast
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.
@en
P2093
P2860
P50
P1476
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis
@en
P2093
Andrew E Timms
Brian Chung
Care4Rare Canada Consortium
Dana Jensen
Diana Alcantara
Heather Brandling-Bennett
Jacek Majewski
Katherine M Christensen
Kym M Boycott
Laura M McDonell
P2860
P304
P356
10.1016/J.AJHG.2016.02.006
P407
P577
2016-03-01T00:00:00Z