Gene2Phenotype
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G2P VEP Plugin
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Terminology
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Cancer
DD
Eye
Skin
for:
For example:
CRYBA1
,
ZEB2
,
TBX1
,
CHANARIN-DORFMAN SYNDROME
or
Severe Neurodevelopmental Syndrome
Search results for MPV17
Genes:
MPV17
Panel:
DD
Gene:
MPV17
Genotype:
biallelic
Mechanism:
loss of function
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 6
