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Mendeliome v0.7700 | KLHL13 | Zornitza Stark Marked gene: KLHL13 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.7700 | KLHL13 | Zornitza Stark Gene: klhl13 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.7700 | KLHL13 |
Zornitza Stark gene: KLHL13 was added gene: KLHL13 was added to Mendeliome. Sources: Expert Review Mode of inheritance for gene: KLHL13 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: KLHL13 were set to 24627108 Phenotypes for gene: KLHL13 were set to HMSN Review for gene: KLHL13 was set to RED Added comment: Single family (two affected males) with an inherited peripheral neuropathy, no functional analysis. Sources: Expert Review |