Mutation nomenclature in practice: findings and recommendations from the cystic fibrosis external quality assessment scheme.

Mutation nomenclature in practice: findings and recommendations from the cystic fibrosis external quality assessment scheme.

Item
http://www.wikidata.org/entity/Q44468603
Pragmatic and Ethical Challenges of Incorporating the Genome into the Electronic Medical Record.HGVS Recommendations for the Description of Sequence Variants: 2016 Update.CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.Sixty-five years since the New York heat wave: advances in sweat testing for cystic fibrosis.What can the CF registry tell us about rare CFTR-mutations? A Belgian study.LSDBs and How They Have Evolved.Principles and Recommendations for Standardizing the Use of the Next-Generation Sequencing Variant File in Clinical Settings.A new insight into CFTR allele frequency in Brazil through next generation sequencing.What's in a Name? A Coordinated Approach toward the Correct Use of a Uniform Nomenclature to Improve Patient Reports and Databases.Fenretinide differentially modulates the levels of long- and very long-chain ceramides by downregulating Cers5 enzyme: evidence from bench to bedside.
P2860

Mutation nomenclature in practice: findings and recommendations from the cystic fibrosis external quality assessment scheme.

Item
http://www.wikidata.org/entity/Q44468603
description
2011 nî lūn-bûn
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2011年の論文
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年學術文章
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2011年學術文章
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2011年學術文章
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name
Mutation nomenclature in pract ...... nal quality assessment scheme.
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Mutation nomenclature in pract ...... nal quality assessment scheme.
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type
label
Mutation nomenclature in pract ...... nal quality assessment scheme.
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Mutation nomenclature in pract ...... nal quality assessment scheme.
@nl
prefLabel
Mutation nomenclature in pract ...... nal quality assessment scheme.
@en
Mutation nomenclature in pract ...... nal quality assessment scheme.
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P2093
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Mutation nomenclature in pract ...... rnal quality assessment scheme
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P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P921