Varaico: Literature-Extracted Genetic Variants

Gene:HPS5
Variant:p.L417M
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HPS5

NM_181507.2:p.L417M

Associated Papers

Identification of modifier gene variants overrepresented in familial hypomagnesemia with hypercalciuria and nephrocalcinosis patients with a more aggressive renal phenotype.

Vall-Palomar M et al.

Plos Genetics, 2025

40173198 (PubMed )
Supplement: pgen.1011568.s004.xlsx › Table_2
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