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A novel biallelic loss-of-function variant in
- Source :
- Cold Spring Harbor molecular case studies. 8(7)
- Publication Year :
- 2022
-
Abstract
- The majority of heterotaxy cases do not obtain a molecular diagnosis, although pathogenic variants in more than 50 genes are known to cause heterotaxy. A heterozygous missense variant in
Details
- ISSN :
- 23732873
- Volume :
- 8
- Issue :
- 7
- Database :
- OpenAIRE
- Journal :
- Cold Spring Harbor molecular case studies
- Accession number :
- edsair.pmid..........c57c6dad00d2274a78b1bb94d8957e38