p.Ser348Cys mutation in FGFR3 gene leads to “Mild ACH /Severe HCH” phenotype
Autor: | Bengur, Fuat Baris, Ekmekci, Cumhur Gokhan, Karaarslan, Ercan, Gunoz, Hulya, Alanay, Yasemin |
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Zdroj: | In European Journal of Medical Genetics February 2020 63(2) |
Databáze: | ScienceDirect |
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