Varaico: Literature-Extracted Genetic Variants

Gene:ADSL
Variant:p.L179F
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ADSL

NM_000026.4:p.L179F

Associated Papers

Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing.

Bijarnia-Mahay S et al.

Orphanet Journal of Rare Diseases, 2018

30285816 (PubMed )
Supplement: 13023_2018_908_MOESM1_ESM.xlsx › Sheet1
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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."