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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EXT1

Variant:p.V293_W304delFs

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EXT1

NM_000127.3:p.V293_W304delFs

hg38:chr8:118110135 CCAGTCTTTGCCATGCTTGCAGGTGGTGAGGAGCA>C

Associated Papers

From Rarity to Reality: Nivelon-Nivelon-Mabille Syndrome Presenting with Renal Tubular Acidosis.

Abhinay A et al.

Indian Journal of Nephrology, 0

39649329 (PubMed )

Supplement: IJN-34-6-678-S1.pdf

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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."