Associated Papers
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
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Supplement: pbio.3002680.s016.xlsx › ClinVar
SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature.
Heeney MM et al.
Human Mutation, 2021
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
34503567 (PubMed )
Supplement: 13073_2021_964_MOESM6_ESM.xlsx › Sheet1
Novel frameshift variant (c.409dupG) in SLC25A38 is a common cause of congenital sideroblastic anaemia in the Indian subcontinent.
Ravindra N et al.
Journal of Clinical Pathology, 2021
Genotype/phenotype correlations of childhood-onset congenital sideroblastic anaemia in a European cohort.
Fouquet C et al.
British Journal of Haematology, 2019
Non syndromic childhood onset congenital sideroblastic anemia: A report of 13 patients identified with an ALAS2 or SLC25A38 mutation.
Le Rouzic MA et al.
Blood Cells, Molecules & Diseases, 2017
Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia.
Kannengiesser C et al.
Haematologica, 2011
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