Varaico: Literature-Extracted Genetic Variants

Gene:SMAD6
Variant:p.D292Splc
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SMAD6

NM_005585.5:p.D292Splc

Associated Papers

Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Zhou X et al.

Nature Genetics, 2022

35982159 (PubMed )
Supplement: 41588_2022_1148_MOESM6_ESM.xlsx › SupplementaryData2_ASD_Rep_DNVs

The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease.

Reuter MS et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32037394 (PubMed )
Supplement: 41436_2020_757_MOESM2_ESM.xlsx › Variants_uncertain_significance
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