Varaico: Literature-Extracted Genetic Variants

Gene:RAB40AL
Variant:p.I164fs
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RAB40AL

NM_001031834.1:p.I164fs

Associated Papers

Case Report: Prenatal Whole-Exome Sequencing to Identify a Novel Heterozygous Synonymous Variant in NIPBL in a Fetus With Cornelia de Lange Syndrome.

Qiao F et al.

Frontiers in Genetics, 2021

33633789 (PubMed )
Supplement: Table_2.xlsx › Sheet1
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