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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EFL1

Variant:p.Q295E

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EFL1

NM_024580.6:p.Q295E

hg38:chr15:82229083 G>C

Associated Papers

EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome.

Tan S et al.

Blood, 2019

31151987 (PubMed )

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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."