Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype.
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Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on January 2017
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Exome sequencing identifies de ...... x connective tissue phenotype.
@en
Exome sequencing identifies de ...... x connective tissue phenotype.
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type
label
Exome sequencing identifies de ...... x connective tissue phenotype.
@en
Exome sequencing identifies de ...... x connective tissue phenotype.
@nl
prefLabel
Exome sequencing identifies de ...... x connective tissue phenotype.
@en
Exome sequencing identifies de ...... x connective tissue phenotype.
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P2093
P2860
P50
P356
P1476
Exome sequencing identifies de ...... ex connective tissue phenotype
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P2093
Annika Dries
Christine M Eng
Daryl Waggott
Ellyn Farrelly
Euan A Ashley
Jonathan A Bernstein
Liliana Fernandez
Magdalena Walkiewicz
Melanie A Manning
Patricia A Zornio
P2860
P304
P356
10.1101/MCS.A001388
P577
2017-01-01T00:00:00Z