Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet-Biedl family
about
Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease managementNovel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigreeExome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophiesThe Role of Genetic Interactions in Neurodevelopmental Disorders
P2860
Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet-Biedl family
description
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name
Deciphering intrafamilial phen ...... ncing in a Bardet-Biedl family
@en
type
label
Deciphering intrafamilial phen ...... ncing in a Bardet-Biedl family
@en
prefLabel
Deciphering intrafamilial phen ...... ncing in a Bardet-Biedl family
@en
P2093
P2860
P50
P356
P1476
Deciphering intrafamilial phen ...... ncing in a Bardet-Biedl family
@en
P2093
Alicia Vela-Boza
Antonio Rueda
Carmen Vázquez-Marouschek
Cristina Méndez-Vidal
Guillermo Antiñolo
Joaquín Dopazo
Salud Borrego
P2860
P304
P356
10.1002/MGG3.50
P577
2013-12-03T00:00:00Z