Varaico: Literature-Extracted Genetic Variants

Gene:NBPF20
Variant:p.E621V
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NBPF20

NM_001397211.1:p.E621V

Associated Papers

Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with Alström syndrome.

Yang L et al.

Bmc Medical Genetics, 2017

28724398 (PubMed )
Supplement: 12881_2017_418_MOESM6_ESM.xlsx › Final_1.xls
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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."