Contribution of mutation load to the intrafamilial genetic heterogeneity in a large cohort of Spanish retinal dystrophies families.
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Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis PigmentosaA clinical and molecular characterisation of CRB1-associated maculopathy.Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration.
P2860
Contribution of mutation load to the intrafamilial genetic heterogeneity in a large cohort of Spanish retinal dystrophies families.
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2014 nî lūn-bûn
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Contribution of mutation load ...... retinal dystrophies families.
@en
Contribution of mutation load ...... retinal dystrophies families.
@nl
type
label
Contribution of mutation load ...... retinal dystrophies families.
@en
Contribution of mutation load ...... retinal dystrophies families.
@nl
prefLabel
Contribution of mutation load ...... retinal dystrophies families.
@en
Contribution of mutation load ...... retinal dystrophies families.
@nl
P2093
P50
P356
P1476
Contribution of mutation load ...... retinal dystrophies families.
@en
P2093
Almudena Ávila-Fernández
Blanca García-Sandoval
Fiona Blanco-Kelly
Jose M Millan
Maria Isabel Lopez-Molina
Miguel Ángel Lopez-Martinez
Olga Zurita
Patricia Fernandez-San Jose
Raquel Pérez-Carro
Rocío Sánchez-Alcudia
P304
P356
10.1167/IOVS.14-14938
P407
P577
2014-10-23T00:00:00Z