Varaico: Literature-Extracted Genetic Variants

Gene:GOLGA6L2
Variant:p.V853A
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GOLGA6L2

NM_001304388.2:p.V853A

Associated Papers

Congenital dyserythropoiesis anemia type Ia with a novel CDAN1 mutation diagnosed by whole exome sequencing.

Lin PC et al.

Molecular Genetics & Genomic Medicine, 2020

32160409 (PubMed )
Supplement: MGG3-8-e1220-s001.xlsx › ___1

De novo MYH9 mutation in congenital scalp hemangioma.

Fomchenko EI et al.

Cold Spring Harbor Molecular Case Studies, 2018

29903892 (PubMed )
Supplement: supp_mcs.a002998_Supplemental_Table1.xlsx › Sheet1
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