Varaico: Literature-Extracted Genetic Variants

Gene:PURA
Variant:p.L75delFs
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PURA

NM_005859.5:p.L75delFs

Associated Papers

The application of whole-exome sequencing in the early diagnosis of rare genetic diseases in children: a study from Southeastern China.

Lai G et al.

Frontiers in Pediatrics, 2024

39439447 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1
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