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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:B4GALT7

Variant:p.E277del1

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B4GALT7

NM_007255.3:p.E277del1

hg38:chr5:177609537 CAGG>C

Associated Papers

Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome.

Ritelli M et al.

Orphanet Journal of Rare Diseases, 2017

28882145 (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."