PMID: 31399060

Shine & Lal index as a predictor for early detection of β-thalassemia carriers in a limited resource area in Bandung, Indonesia.

BMC medical genetics
AM Maskoen, L Reniarti, E Sahiratmadja, J Sisca, SH Effendi
2019-08-09

4 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-460905-C-G SHC2 c.92G>C p.Arg31Pro Missense 1/13 -
19-460918-C-T SHC2 c.79G>A p.Ala27Thr Missense 1/13 -
12-102591521-T-TC PMCH c.27_28insG p.Ile10Aspfs*26 Frameshift 1/3 -
12-102591490-T-C PMCH c.59A>G p.Gln20Arg Missense 1/3 -