Gene2Phenotype
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G2P VEP Plugin
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Terminology
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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 SPTLC2
Genes:
SPTLC2
Panel:
DD
Gene:
SPTLC2
Genotype:
monoallelic
Mechanism:
all missense/in frame
Disease:
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC
