Varaico: Literature-Extracted Genetic Variants

Gene:TMEM138
Variant:p.I43Splc
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TMEM138

NM_016464.5:p.I43Splc

Associated Papers

Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.

Jain R et al.

Genetics in Medicine Open, 2025

40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1

The genetic landscape of inherited retinal dystrophies in Arabs.

Jaffal L et al.

Bmc Medical Genomics, 2023

37127645 (PubMed )
Supplement: 12920_2023_1518_MOESM2_ESM.xlsx › Sheet1

Characterization of an Emirati TMEM138 mutation leading to Joubert syndrome.

Bizzari S et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2017

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