Carapito et al., 2017 - Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features. The Journal of Clinical Investigation   127(11):4090-4103 Full text @ Journal of Clin. Invest.
Human Disease / Model Data (1 Record)
Human Disease Fish Environment Evidence Code
Shwachman-Diamond syndrome i114Tg; nz50Tg + MO1-srp54 standard conditions
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