Article

Somatic uniparental disomy mitigates the most damaging <i>EFL1</i> allele combination in Shwachman-Diamond syndrome

2018-12-04

Abstract excerpt

Shwachman-Diamond syndrome (SDS; OMIM: #260400) is caused by variants in SBDS (Shwachman-Bodian-Diamond syndrome gene), which encodes a protein that plays an important role in ribosome assembly. Recent reports suggest that recessive variants in EFL1 are also responsible for SDS. However, the precise genetic mechanism that leads to EFL1 -induced SDS remains incompletely understood. Here we present three unrelate...

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Literature Corpus work: 4c1c0f17-a746-5ec5-8df7-a8bfc910a847
DOI: 10.1101/483362

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