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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SNF8
(R104L +3 more)
Single nucleotide variant
(missense variant +1 more)
SNF8-associated disease
GPathogenic
SNF8
(P62L +1 more)
Single nucleotide variant
(missense variant +2 more)
SNF8-associated disease
GPathogenic
SNF8
(G174D +3 more)
Single nucleotide variant
(missense variant +1 more)
SNF8-associated disease
GPathogenic
SNF8
(Y150* +2 more)
Single nucleotide variant
(nonsense +1 more)
SNF8-associated disease
GPathogenic
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