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| Mendeliome v0.1941 | SH3KBP1 | Zornitza Stark Marked gene: SH3KBP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1941 | SH3KBP1 | Zornitza Stark Gene: sh3kbp1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1941 | SH3KBP1 | Zornitza Stark Tag SV/CNV tag was added to gene: SH3KBP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1941 | SH3KBP1 |
Zornitza Stark gene: SH3KBP1 was added gene: SH3KBP1 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: SH3KBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SH3KBP1 were set to 29636373; 21708930 Phenotypes for gene: SH3KBP1 were set to Immunodeficiency 61, MIM# 300310 Review for gene: SH3KBP1 was set to RED Added comment: Single family reported, 247.5-kb intragenic deletion detected by array. Sources: Expert list |
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