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| Mendeliome v2.72 | NKPD1 | Bryony Thompson Marked gene: NKPD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.72 | NKPD1 | Bryony Thompson Gene: nkpd1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.72 | NKPD1 |
Bryony Thompson gene: NKPD1 was added gene: NKPD1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: NKPD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NKPD1 were set to 38642798 Phenotypes for gene: NKPD1 were set to lamellar ichthyosis MONDO:0017778 Review for gene: NKPD1 was set to RED Added comment: A single German family segregating a missense (c.1372G>T, p.[Val458Phe]) variant. Sources: Literature |
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