Germline mutation in BRAF codon 600 is compatible with human development: de novo p.V600G mutation identified in a patient with CFC syndrome.
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The intermediate-activity (L597V)BRAF mutant acts as an epistatic modifier of oncogenic RAS by enhancing signaling through the RAF/MEK/ERK pathwayGermline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.BRAF mutation testing in clinical practice.Mitochondrial dysfunction: a neglected component of skin diseases.The yin-yang of kinase activation and unfolding explains the peculiarity of Val600 in the activation segment of BRAF.Ultra-sensitive Sequencing Identifies High Prevalence of Clonal Hematopoiesis-Associated Mutations throughout Adult Life.RAS/BRAF mutational status in familial non-medullary thyroid carcinomas: A retrospective study.
P2860
Q28512744-F64708D2-AE0A-4F48-A8D5-D8AE1655B196Q36891139-27A7AECF-76B0-4911-81DC-32C2F99BB59FQ37988572-6BE5D271-BA76-45D6-8CB6-282685768603Q38224847-505CA77A-ADCF-4D23-B02D-222E9F5B24E4Q38358817-1A2DE794-F95C-49E3-B748-4F5BEE444C98Q40150370-03A30109-AB1C-4527-AE2C-F1732781EFF4Q40257700-2917F4BD-49C2-4D7F-B95B-DD27BB5B7A4B
P2860
Germline mutation in BRAF codon 600 is compatible with human development: de novo p.V600G mutation identified in a patient with CFC syndrome.
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2011 nî lūn-bûn
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name
Germline mutation in BRAF codo ...... n a patient with CFC syndrome.
@en
Germline mutation in BRAF codo ...... n a patient with CFC syndrome.
@nl
type
label
Germline mutation in BRAF codo ...... n a patient with CFC syndrome.
@en
Germline mutation in BRAF codo ...... n a patient with CFC syndrome.
@nl
prefLabel
Germline mutation in BRAF codo ...... n a patient with CFC syndrome.
@en
Germline mutation in BRAF codo ...... n a patient with CFC syndrome.
@nl
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Germline mutation in BRAF codo ...... n a patient with CFC syndrome.
@en
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D B Everman
K J Champion
R C Rogers
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P304
P356
10.1111/J.1399-0004.2010.01495.X
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2011-05-01T00:00:00Z