Varaico: Literature-Extracted Genetic Variants

Gene:CHD7
Variant:p.Q187*
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CHD7

NM_017780.4:p.Q187*

Associated Papers

Digenic CHD7 and SMCHD1 inheritance Unveils phenotypic variability in a family mainly presenting with hypogonadotropic hypogonadism.

Wang T et al.

Heliyon, 2024

38148819 (PubMed )
Supplement: mmc1.docx

A genome-wide DNA methylation signature for SETD1B-related syndrome.

Krzyzewska IM et al.

Clinical Epigenetics, 2019

31685013 (PubMed )
Supplement: 13148_2019_749_MOESM5_ESM.xlsx › Sheet1
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