Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum.
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Whole Genome Sequencing Revealed Mutations in Two Independent Genes as the Underlying Cause of Retinal Degeneration in an Ashkenazi Jewish Pedigree.Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.
P2860
Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum.
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name
Homozygous variant in C21orf2 ...... nding the phenotypic spectrum.
@en
Homozygous variant in C21orf2 ...... nding the phenotypic spectrum.
@nl
type
label
Homozygous variant in C21orf2 ...... nding the phenotypic spectrum.
@en
Homozygous variant in C21orf2 ...... nding the phenotypic spectrum.
@nl
prefLabel
Homozygous variant in C21orf2 ...... nding the phenotypic spectrum.
@en
Homozygous variant in C21orf2 ...... nding the phenotypic spectrum.
@nl
P2093
P2860
P50
P356
P1476
Homozygous variant in C21orf2 ...... nding the phenotypic spectrum.
@en
P2093
Andreas Zankl
Carol Wicking
Lawrie Wheeler
Lisa K Anderson
Mhairi S Marshall
Paul J Leo
P2860
P304
P356
10.1002/AJMG.A.38215
P407
P577
2017-04-19T00:00:00Z