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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SALL1

Variant:p.C1139W

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SALL1

NM_002968.3:p.C1139W

hg38:chr16:51138805 A>C

Associated Papers

Homozygous SALL1 mutation causes a novel multiple congenital anomaly-mental retardation syndrome.

Vodopiutz J et al.

The Journal of Pediatrics, 2013

23069192 (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."