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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CSPP1

Variant:p.H121_L123delFs

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CSPP1

NM_024790.6:p.H121_L123delFs

hg38:chr8:67086061 ATAAAT>A

Associated Papers

Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders.

Álvarez-Mora MI et al.

Orphanet Journal of Rare Diseases, 2022

35183220 (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."