Varaico: Literature-Extracted Genetic Variants

Gene:SURF1
Variant:p.F290delFs
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SURF1

NM_003172.4:p.F290delFs

Associated Papers

Challenges of genetic diagnosis of inborn errors of metabolism in a major tertiary care center in Lebanon.

Salman DO et al.

Frontiers in Genetics, 2022

Catalogue for Transmission Genetics in Arabs (CTGA) Database: Analysing Lebanese Data on Genetic Disorders.

Bizzari S et al.

Genes, 2021

34680914 (PubMed )
Supplement: genes-12-01518-s001.zip › SupplementaryTableS2_26-09-2021.xlsx › CTGA-unique_variants

Utility of Hypotonia Diagnostic Investigations: A 12-year Single Center Study.

AlBanji MH et al.

Molecular Genetics and Metabolism Reports, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."