VARIANT: 9987v1
Help
Entry
9987v1 Variant
Name
HNRNPDL mutation
Type
Loss of function
Gene
HNRNPDL
heterogeneous nuclear ribonucleoprotein D like [KO:
K13044
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
607137
Network
nt06547
Spliceosome
Disease
H00593
Limb-girdle muscular dystrophy
Reference
PMID:
24647604
Authors
Vieira NM, Naslavsky MS, Licinio L, Kok F, Schlesinger D, Vainzof M, Sanchez N, Kitajima JP, Gal L, Cavacana N, Serafini PR, Chuartzman S, Vasquez C, Mimbacas A, Nigro V, Pavanello RC, Schuldiner M, Kunkel LM, Zatz M
Title
A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G).
Journal
Hum Mol Genet 23:4103-10 (2014)
DOI:
10.1093/hmg/ddu127
LinkDB
All DBs
DBGET
integrated database retrieval system
