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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:B3GALNT1

Variant:p.Y152*

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B3GALNT1

NM_003781.4:p.Y152*

hg38:chr3:161086299 A>T

Associated Papers

Human genetic disorders of sphingolipid biosynthesis.

Astudillo L et al.

Journal of Inherited Metabolic Disease, 2015

25141825 (PubMed )

P1/P2 genotyping of known and novel null alleles in the P1PK and GLOB histo-blood group systems.

Westman JS et al.

Transfusion, 2013

23927681 (PubMed )

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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."