Varaico: Literature-Extracted Genetic Variants

Gene:EIF6
Variant:p.M1T
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EIF6

NM_002212.4:p.M1T

Associated Papers

Convergent somatic evolution commences in utero in a germline ribosomopathy.

Machado HE et al.

Nature Communications, 2023

Predisposition to myeloid malignancies in Shwachman-Diamond syndrome: biological insights and clinical advances.

Reilly CR et al.

Blood, 2023

Somatic genetic rescue of a germline ribosome assembly defect.

Tan S et al.

Nature Communications, 2021

34413298 (PubMed )
Supplement: 41467_2021_24999_MOESM2_ESM.xlsx › Feuil1

Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome.

Kennedy AL et al.

Nature Communications, 2021

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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."