Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
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| | | Single nucleotide variant (missense variant) | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset | |
| | | Single nucleotide variant (missense variant) | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset | |
| | | Single nucleotide variant (missense variant) | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset | |
| | | Single nucleotide variant (missense variant) | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 +1 more | |
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