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| Mendeliome v0.7938 | PLEKHN1 | Zornitza Stark Marked gene: PLEKHN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7938 | PLEKHN1 | Zornitza Stark Gene: plekhn1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7938 | PLEKHN1 |
Zornitza Stark gene: PLEKHN1 was added gene: PLEKHN1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: PLEKHN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLEKHN1 were set to 33884296 Phenotypes for gene: PLEKHN1 were set to Sensory Neuropathy Review for gene: PLEKHN1 was set to RED Added comment: Hom missense variant in single patient with severely reduced/absent pain and temperature sensation Sources: Literature |
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