Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation.
about
Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosisHigh Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype CorrelationPatterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I.
P2860
Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation.
description
2012 nî lūn-bûn
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2012年の論文
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2012年論文
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2012年論文
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2012年論文
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2012年論文
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2012年论文
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name
Increased rate of missense/in- ...... enotype-phenotype correlation.
@en
type
label
Increased rate of missense/in- ...... enotype-phenotype correlation.
@en
prefLabel
Increased rate of missense/in- ...... enotype-phenotype correlation.
@en
P2093
P2860
P356
P1476
Increased rate of missense/in- ...... enotype-phenotype correlation.
@en
P2093
Emma K Sach
Hen Hallevi
Meena Upadhyaya
Shay Ben-Shachar
Shlomi Constantini
Susan M Huson
P2860
P2888
P304
P356
10.1038/EJHG.2012.221
P50
P577
2012-10-10T00:00:00Z
P6179
1030822809