Skewed allele-specific expression of the NF1 gene in normal subjects: a possible mechanism for phenotypic variability in neurofibromatosis type 1.
about
Allelic expression of deleterious protein-coding variants across human tissues.Elucidating the impact of neurofibromatosis-1 germline mutations on neurofibromin function and dopamine-based learning.Differential allelic expression of SOS1 and hyperexpression of the activating SOS1 c.755C variant in a Noonan syndrome familyEmerging genotype-phenotype relationships in patients with large NF1 deletions.Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients.Brain imaging findings and social/emotional problems in Israeli children with neurofibromatosis type 1.Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome.Update on Genetic Conditions Affecting the Skin and the Kidneys.
P2860
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P2860
Skewed allele-specific expression of the NF1 gene in normal subjects: a possible mechanism for phenotypic variability in neurofibromatosis type 1.
description
2011 nî lūn-bûn
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name
Skewed allele-specific express ...... y in neurofibromatosis type 1.
@en
Skewed allele-specific express ...... y in neurofibromatosis type 1.
@nl
type
label
Skewed allele-specific express ...... y in neurofibromatosis type 1.
@en
Skewed allele-specific express ...... y in neurofibromatosis type 1.
@nl
prefLabel
Skewed allele-specific express ...... y in neurofibromatosis type 1.
@en
Skewed allele-specific express ...... y in neurofibromatosis type 1.
@nl
P2093
P2860
P356
P1476
Skewed allele-specific express ...... ty in neurofibromatosis type 1
@en
P2093
Chris Rajan
David M Saffen
Garilyn M Jentarra
Shannon Olfers
Stephen Gabe Rice
P2860
P304
P356
10.1177/0883073811423439
P50
P577
2011-11-08T00:00:00Z