GC c.1015_1016insT ;(p.N339Ifs*7)

Variant ID: 4-72622447-T-TA

NM_000583.3(GC):c.1015_1016insT;(p.N339Ifs*7)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Genotype-Phenotype correlations of SCARB2 associated clinical presentation: a case report and in-depth literature review.

Bmc Neurology
Atasu, Burcu B; Acarlı, Ayse Nur Ozdag ANO; Bilgic, Basar B; Baykan, Betül B; Demir, Erol E; Ozluk, Yasemin Y; Turkmen, Aydin A; Hauser, Ann-Kathrin AK; Guven, Gamze G; Hanagasi, Hasmet H; Gurvit, Hakan H; Emre, Murat M; Gasser, Thomas T; Lohmann, Ebba E
Publication Date: 2022-03-28

Variant appearance in text: GC: 1015insT
PubMed Link: 35346091
Variant Present in the following documents:
  • Main text
  • 12883_2022_Article_2628.pdf
View BVdb publication page