Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EFL1

Variant:p.C883G

Back to variants list

EFL1

NM_001040610.3:p.C883G

hg38:chr15:82151654 A>C

Associated Papers

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

Tan S et al.

Blood, 2019

31151987 (PubMed )

Select a paper to view details

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."