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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NBAS

Variant:p.K1908_L1909Splc

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NBAS

NM_015909.4:p.K1908_L1909Splc

hg38:chr2:15238694 A>G

Associated Papers

A Novel Silent Mutation in the L1CAM Gene Causing Fetal Hydrocephalus Detected by Whole-Exome Sequencing.

Sun Y et al.

Frontiers in Genetics, 2019

31572438 (PubMed )

Supplement: Table_1.xlsx › Sheet1

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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."