Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.L257F
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ABCA4

NM_000350.3:p.L257F

Associated Papers

Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.

Biswas P et al.

Plos Genetics, 2021

Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy.

Bauwens M et al.

Clinical Genetics, 2020

31721179 (PubMed )
Supplement: CGE-97-426-s001.docx

Organoid Models of Human Liver Cancers Derived from Tumor Needle Biopsies.

Nuciforo S et al.

Cell Reports, 2018

30067989 (PubMed )
Supplement: mmc1.pdf
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