p.Thr422Ala
· 7 retained evidence mentions
Source-grounded findings
Supporting evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | p.Thr422Ala | “In this study, we have generated two clones of induced pluripotent stem cells (iPSCs) from a 10-year-old female BTBGD patient carrying a homozygous mutation for the pathogenic variant in exon 5 of the SLC19A3 gene, c.1264A > G (p.Thr422Ala).” | 0.95 | hgvs_regex_v1 |
| variant | p.Thr422Ala | “The dramatic response to high doses of thiamine suggested SLC19A3 as a strong candidate gene, and Sanger sequencing revealed a homozygous (NM_025243.4): c.1264A>G (p.Thr422Ala) mutation.” | 0.95 | hgvs_regex_v1 |
| variant | p.Thr422Ala | “Two novel homozygous missense SLC19A3 variants were detected in a Kuwaiti and a Jordanian individuals, in addition to the previously reported Saudi founder homozygous variant, c.1264A > G; p.(Thr422Ala) in the remaining cases.” | 0.95 | hgvs_regex_v1 |
| variant | p.Thr422Ala | “METHODS: Individuals with genetically confirmed BTBGD who harbored the same homozygous variant: NM_025243.4 (SLC19A3): c.1264A > G (p.Thr422Ala) and had atypical neuroimaging were recruited.” | 0.95 | hgvs_regex_v1 |
| variant | p.Thr422Ala | “Screening of the SLC19A3 gene revealed a previously reported heterozygous missense mutation (c.1264A>G (p.Thr422Ala) in six unrelated newborns.” | 0.95 | hgvs_regex_v1 |
| variant | p.Thr422Ala | “In addition, a genetic testing was performed using whole exome sequencing and Sanger sequencing which demonstrated a previously reported homozygous mutation in exon 5 of the SLC19A3 gene c.1264A>G (p.Thr422Ala).” | 0.95 | hgvs_regex_v1 |
| variant | p.Thr422Ala | “He was proved by molecular genetic testing to have homozygous mutation of c.1264A>G (p.Thr422Ala) in the SLC19A3 gene of BTRBGD.” | 0.95 | hgvs_regex_v1 |