PMCH c.27_28insG ;(p.I10Dfs*26)

Variant ID: 12-102591521-T-TC

NM_002674.2(PMCH):c.27_28insG;(p.I10Dfs*26)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Significance of genetic modifiers of hemoglobinopathies leading towards precision medicine.

Scientific Reports
Hariharan, Priya P; Gorivale, Manju M; Sawant, Pratibha P; Mehta, Pallavi P; Nadkarni, Anita A
Publication Date: 2021-10-22

Variant appearance in text: MCH: 27_28insG
PubMed Link: 34686692
Variant Present in the following documents:
  • Main text
View BVdb publication page



Nationwide carrier detection and molecular characterization of β-thalassemia and hemoglobin E variants in Bangladeshi population.

Orphanet Journal Of Rare Diseases
Noor, Farjana Akther FA; Sultana, Nusrat N; Bhuyan, Golam Sarower GS; Islam, Md Tarikul MT; Hossain, Mohabbat M; Sarker, Suprovath Kumar SK; Islam, Khaleda K; Khan, Waqar Ahmed WA; Rahman, Mujahida M; Qadri, Syeda Kashfi SK; Shekhar, Hossain Uddin HU; Qadri, Firdausi F; Qadri, Syed Saleheen SS; Mannoor, Kaiissar K
Publication Date: 2020-01-15

Variant appearance in text: MCH: 27_28insG
PubMed Link: 31941534
Variant Present in the following documents:
  • 13023_2020_Article_1294.pdf
View BVdb publication page



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

Bmc Medical Genetics
Maskoen, Ani Melani AM; Reniarti, Lelani L; Sahiratmadja, Edhyana E; Sisca, Joice J; Effendi, Sjarif Hidajat SH
Publication Date: 2019-08-09

Variant appearance in text: MCH: 27_28insG
PubMed Link: 31399060
Variant Present in the following documents:
  • Main text
  • 12881_2019_Article_868.pdf
View BVdb publication page



Mutation analysis of β-thalassemia in East-Western Indian population: a recent molecular approach.

The Application Of Clinical Genetics
Shah, Parth S PS; Shah, Nidhi D ND; Ray, Hari Shankar P HSP; Khatri, Nikunj B NB; Vaghasia, Ketan K KK; Raval, Rutvik J RJ; Shah, Sandip C SC; Rao, Mandava V MV
Publication Date: 2017

Variant appearance in text: MCH: 27_28insG
PubMed Link: 28546763
Variant Present in the following documents:
  • Main text
  • tacg-10-027.pdf
View BVdb publication page