Varaico: Literature-Extracted Genetic Variants

Gene:BLTP1
Variant:p.S645fs
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BLTP1

NM_001384125.1:p.S645fs

Associated Papers

Prenatal Phenotype of Alkuraya-Kučinskas Syndrome: A Novel Case and Systematic Literature Review.

Rice SM et al.

Prenatal Diagnosis, 2024

KIAA1109 gene mutation in surviving patients with Alkuraya-Kučinskas syndrome: a review of literature.

Kumar K et al.

Bmc Medical Genetics, 2020

Novel KIAA1109 variants affecting splicing in a Russian family with ALKURAYA-KUČINSKAS syndrome.

Filatova A et al.

Clinical Genetics, 2019

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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."