VARIANT: 5792v1
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Entry
5792v1 Variant
Name
PTPRF mutation
Type
Loss of function
Gene
PTPRF
protein tyrosine phosphatase receptor type F [KO:
K05695
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
179590
Network
nt06546
IgSF CAM signaling
Disease
H02811
Aplasia or hypoplasia of the breasts and/or nipples
Reference
PMID:
24781087
Authors
Borck G, de Vries L, Wu HJ, Smirin-Yosef P, Nurnberg G, Lagovsky I, Ishida LH, Thierry P, Wieczorek D, Nurnberg P, Foley J, Kubisch C, Basel-Vanagaite L
Title
Homozygous truncating PTPRF mutation causes athelia.
Journal
Hum Genet 133:1041-7 (2014)
DOI:
10.1007/s00439-014-1445-1
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integrated database retrieval system
