Variant in SCYL1 gene causes aberrant splicing in a family with cerebellar ataxia, recurrent episodes of liver failure, and growth retardation

Adi Shohet, Lior Cohen, Danielle Haguel, Yael Mozer, Noam Shomron, Shay Tzur, Lily Bazak, Lina Basel Salmon, Irit Krause*

*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

21 Scopus citations

Fingerprint

Dive into the research topics of 'Variant in SCYL1 gene causes aberrant splicing in a family with cerebellar ataxia, recurrent episodes of liver failure, and growth retardation'. Together they form a unique fingerprint.

Keyphrases

Biochemistry, Genetics and Molecular Biology