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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IQCJ-SCHIP1

Variant:p.L209F

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IQCJ-SCHIP1

NM_001197114.2:p.L209F

hg38:chr3:159764857 C>T

Associated Papers

Homozygous nonsense mutation in SCHIP1/IQCJ-SCHIP1 causes a neurodevelopmental brain malformation syndrome.

Elsaid MF et al.

Clinical Genetics, 2018

28787085 (PubMed )

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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."