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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SMPD4

Variant:p.G422Splc

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SMPD4

NM_001171083.2:p.G422Splc

hg38:chr2:130155095 C>T

Associated Papers

Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East.

Palombo F et al.

Human Genetics, 2020

32488467 (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."