Biallelic pathogenic variants in COL9A3 confirm autosomal recessive stickler syndromeAboulfazl Rad,Maryam Najafi,Fatemeh Suri,Stephen Loum,Ehsan Ghayoor Karimiani,David Murphy,Mohammad Doosti,Narsis Daftarian,Paria Najarzadeh Torbati,Afrooz Moghaddasi,Hamid Ahmadieh,Mohsen Rajati,Narges Hashemi,Barbara Vona,Miriam SchmidtsEUROPEAN JOURNAL OF HUMAN GENETICS(2022)引用 0|浏览15暂无评分AI 理解论文溯源树样例生成溯源树,研究论文发展脉络Chat Paper正在生成论文摘要