Gene2Phenotype
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G2P VEP Plugin
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ALL
Cancer
DD
Eye
Skin
for:
For example:
CRYBA1
,
ZEB2
,
TBX1
,
CHANARIN-DORFMAN SYNDROME
or
Severe Neurodevelopmental Syndrome
Search results for CEP78
Gene symbol
Genotype
Mutation consequence
Disease
Panel
CEP78
biallelic
loss of function
Cone-rod dystrophy and hearing loss