Varaico: Literature-Extracted Genetic Variants

Gene:CHD4
Variant:p.V1011_V1012ins3
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CHD4

NM_001273.5:p.V1011_V1012ins3

Associated Papers

A Novel Frameshift CHD4 Variant Leading to Sifrim-Hitz-Weiss Syndrome in a Proband with a Subclinical Familial t(17;19) and a Large dup(2)(q14.3q21.1).

Da Silva JD et al.

Biomedicines, 2022

36672520 (PubMed )
Supplement: biomedicines-11-00012-s001.zip › Table_S2-S5.xlsx › Table_S5
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