 | | VARIANT: 8506v1 | |
| Entry |
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| Name |
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| Type |
Loss of function
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| Gene |
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| Organism |
hsa_var Human gene variants (Homo sapiens)
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| Variation |
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| Network |
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| Disease |
| H00865 | Lethal congenital contractural syndrome |
| H02357 | Congenital hypomyelinating neuropathy |
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| Reference |
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| Authors |
Lakhani S, Doan R, Almureikhi M, Partlow JN, Al Saffar M, Elsaid MF, Alaaraj N, James Barkovich A, Walsh CA, Ben-Omran T |
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| Title |
Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy. |
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| Journal |
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| Reference |
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| Authors |
Mehta P, Kuspert M, Bale T, Brownstein CA, Towne MC, De Girolami U, Shi J, Beggs AH, Darras BT, Wegner M, Piao X, Agrawal PB |
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| Title |
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. |
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| Journal |
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| LinkDB |
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