Varaico: Literature-Extracted Genetic Variants

Gene:EIF2D
Variant:p.L93L
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EIF2D

NM_006893.3:p.L93L

Associated Papers

Mutations causing premature termination codons discriminate and generate cellular and clinical variability in HHT.

Bernabéu-Herrero ME et al.

Blood, 2024

38457357 (PubMed )
Supplement: BLOOD_BLD-2023-021777-mmc1.pdf
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