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Bardet-Biedl Syndrome 2
Breed: Shetland Sheepdog
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available in this breed
General
Disease Name
Bardet-Biedl Syndrome 2
OMIA
2484
Gene Name
BBS2
Mutation
g.59693737G>C
Mutation 2
c.1222G>C
Mutation 3
p.(A408P)
Test Type
Genetic Disease/Disorder
Details
This is a novel form of Progressive Retinal Atrophy in the Shetland Sheepdog.
Published
HSP Test-Specific Data
Canine Genetic Testing
GTP
GTP Name
Canine Genetic Testing
Breed
OMIA
Gene Name
BBS2
Mutation
c.1222G>C
Weatherbys Scientific
GTP
GTP Name
Weatherbys Scientific
Breed
OMIA
Gene Name
BBS2
Mutation
g.59693737G>C; c.1222G>C; p.(A408P)
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