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Simultaneous Detection of NF1, SPRED1, LZTR1, and NF2 Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients.
Genes (Basel). 2020 Jun 19;11(6):671. doi: 10.3390/genes11060671.
Genes (Basel). 2020.
PMID: 32575496
Free PMC article.
Insights into 6q21-q22: Refinement of the critical region for acro-cardio-facial syndrome.
Milani D, Cagnoli GA, Baccarin M, Alfei E, Guerneri S, Esposito S.
Milani D, et al. Among authors: cagnoli ga.
Congenit Anom (Kyoto). 2016 Jul;56(4):187-189. doi: 10.1111/cga.12164.
Congenit Anom (Kyoto). 2016.
PMID: 27038333
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