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WP5399 - NPHP1 deletion syndrome - Homo sapiens

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NIAID Data Ecosystem2026-05-02 收录
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Mutations or loss of NPHP1 cause nephronophthisis (NPHP), a rare genetic disorder. Due to the involvement of NPHP1 in ciliary function and cellular orientation in kidney, the main symptoms of the disorder are found in kidney development and function. Howevre, as in many ciliopathies, neuronal functions are also affected, causing psychiatric disorders.
创建时间:
2025-04-17
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