# Mutations in <i>EFL1</i>, an <i>SBDS</i> partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-Diamond like syndrome

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/mutations-in-i-efl1-i-an-i-sbds-i-partner-are-associated-with-infantile/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Polina Stepensky,Montserrat Chacón-Flores,Katherine H. Kim,Omar Abuzaitoun,Arnulfo Bautista-Santos,Natalia Simanovsky,Dritan Siliqi,Davide Altamura,Alfonso Méndez-Godoy,Abril Gijsbers,Adeeb NaserEddin,Talia Dor,Joel Charrow,Nuria Sánchez‐Puig,Orly Elpeleg |
| Citations | 128 |
| DOI | 10.1136/jmedgenet-2016-104366 |
| Fields | Biochemistry, Genetics and Molecular Biology |
| Open Access | false |
| OA Status | closed |
| OpenAlex ID | https://openalex.org/W2602455051 |
| PMID | 28331068 |
| Type | article |
| Year | 2017 |

## Paper authors

- [Natalia Simanovsky](https://scholariq.org/researchers/natalia-simanovsky/)

## Paper primary topic

- [Blood disorders and treatments](https://scholariq.org/topics/blood-disorders-and-treatments/)

## Paper topics

- [Blood disorders and treatments](https://scholariq.org/topics/blood-disorders-and-treatments/)
- [RNA modifications and cancer](https://scholariq.org/topics/rna-modifications-and-cancer/)
- [Biochemical and Molecular Research](https://scholariq.org/topics/biochemical-and-molecular-research/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.