Gene Locus : human-SERAC1
Mode of mutation : Natural mutant
Disease : MEGDEL syndrome
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
The patient, a 2-year-and-6-month-old male heterozygous deletion of exons 6 to 17 and c.307A>T nonsense variant
| Title : [Clinical and molecular genetic analysis of a case of MEGDEL syndrome] - Zhang_2021_Zhonghua.Yi.Xue.Yi.Chuan.Xue.Za.Zhi_38_271 |
| Author(s) : Zhang X , Li D , Lyu N , Yang J , Yang C , Ma W |
| Ref : Zhonghua Yi Xue Yi Chuan Xue Za Zhi , 38 :271 , 2021 |
| Abstract : |
| PubMedSearch : Zhang_2021_Zhonghua.Yi.Xue.Yi.Chuan.Xue.Za.Zhi_38_271 |
| PubMedID: 33751540 |
| Gene_locus related to this paper: human-SERAC1 |