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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BLTP1

Variant:p.M758_F762del5

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BLTP1

NM_001384125.1:p.M758_F762del5

hg38:chr4:122219363 CATGTATATGGATTTT>C

Associated Papers

KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.

Gueneau L et al.

American Journal of Human Genetics, 2018

29290337 (PubMed )

Supplement: mmc1.pdf

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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."