Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B1
Variant:p.R147*
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EIF2B1

NM_001414.4:p.R147*

Associated Papers

Uncovering the Molecular Signatures of Rare Genetic Diseases in the Punjabi Population.

Tabassum I et al.

International Journal of Molecular Sciences, 2025

41516090 (PubMed )
Supplement: ijms-27-00206-s001.zip › Supplementary_Table_S2__Tabassum_et_al.xlsx › Table_S2A

Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.

Sheth J et al.

Orphanet Journal of Rare Diseases, 2024

39138584 (PubMed )
Supplement: 13023_2024_3300_MOESM3_ESM.xlsx › Disease_under_NMND

X-Linked Thrombocytopenia and Vanishing White Matter Disease in a Child: Double Tragedy.

Pilania RK et al.

Journal of Clinical Immunology, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."