Varaico: Literature-Extracted Genetic Variants

Gene:SAR1B
Variant:p.L28fs
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SAR1B

NM_016103.4:p.L28fs

Associated Papers

Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Dron JS et al.

Bmc Medical Genomics, 2020

32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4

Chylomicron Retention Disease: a Description of a New Mutation in a Very Rare Disease.

Ferreira H et al.

Pediatric Gastroenterology, Hepatology & Nutrition, 2018

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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."