Links from PubMed
Items: 2
| Variation | | Type (Consequence) | Condition | Classification, Review status |
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| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4F +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hypokalemic periodic paralysis, type 1 +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene