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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GALNT3

Variant:p.Q542_Y543Splc

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GALNT3

NM_004482.4:p.Q542_Y543Splc

hg38:chr2:165749906 A>C

Associated Papers

Heart-hand syndrome of Slovenian type: a new kind of laminopathy.

Renou L et al.

Journal of Medical Genetics, 2008

18611980 (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."