Varaico: Literature-Extracted Genetic Variants

Gene:NKPD1
Variant:p.S52F
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NKPD1

NM_198478.4:p.S52F

Associated Papers

Germline variants in UHRF1 are associated with multilocus imprinting disturbance in humans and mice.

Ochoa E et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

40825131 (PubMed )
Supplement: pnas.2505884122.sd01.xlsx › Sheet1

Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases.

Maciąg A et al.

Bmc Genetics, 2015

25888430 (PubMed )
Supplement: 12863_2015_177_MOESM1_ESM.xls › 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."