Varaico: Literature-Extracted Genetic Variants

Gene:BLTP1
Variant:p.P1631R
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BLTP1

NM_001384125.1:p.P1631R

Associated Papers

Compound Heterozygous Variants in a Surviving Patient With Alkuraya-Kučinskas Syndrome: A New Case Report and a Review of the Literature.

Yue L et al.

Frontiers in Pediatrics, 2022

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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."