Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A1
Variant:p.P110L
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SLC12A1

NM_000338.3:p.P110L

Associated Papers

Functional heterogeneity of ROMK mutations linked to hyperprostaglandin E syndrome.

Jeck N et al.

Kidney International, 2001

Tyrosinemia type 1 should be suspected in infants with severe coagulopathy even in the absence of other signs of liver failure.

Croffie JM et al.

Pediatrics, 1999

The molecular genetic approach to "Bartter's syndrome".

Károlyi L et al.

Journal of Molecular Medicine (berlin, Germany), 1998

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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."