Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome.
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S. Antonarakis | S. Deutsch | T. Schwede | G. Merla | A. Geinoz | G. Gabbiani | M. Bochaton-Piallat | T. Matthes | P. Beris | A. Rideau