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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HHAT

Variant:p.W378*

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HHAT

NM_018194.6:p.W378*

hg38:chr1:210587987 G>A

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."