Varaico: Literature-Extracted Genetic Variants

Gene:CHD7
Variant:p.L2534insFs
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CHD7

NM_017780.4:p.L2534insFs

Associated Papers

A holistic approach to maximise diagnostic output in trio exome sequencing.

von Hardenberg S et al.

Frontiers in Pediatrics, 2023

37274821 (PubMed )
Supplement: Datasheet1.xlsx › Table_1_pV_lpV_variants
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