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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:JMJD1C

Variant:p.T509fs

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JMJD1C

NM_001282948.2:p.T509fs

hg38:chr10:63214096 AGT>N

Associated Papers

Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder.

Blackburn PR et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37398376 (PubMed )

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