Varaico: Literature-Extracted Genetic Variants

Gene:HYAL4
Variant:p.D145G
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HYAL4

NM_012269.3:p.D145G

Associated Papers

Sequential Defects in Cardiac Lineage Commitment and Maturation Cause Hypoplastic Left Heart Syndrome.

Krane M et al.

Circulation, 2021

34694888 (PubMed )
Supplement: cir-144-1409-s001.xlsx › 1D_WES_results_PCGC_cohort

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.

Kosmicki JA et al.

Nature Genetics, 2017

28191890 (PubMed )
Supplement: NIHMS845776-supplement-5.xlsx › Congenital_Heart_Disease
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