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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SBDS
Single nucleotide variant
(splice donor variant)
Shwachman-Diamond syndrome 1
+11 more
GPathogenic/Likely pathogenic
SBDS
(K62*)
Indel
(nonsense)
Inborn genetic diseases
+5 more
GPathogenic