Varaico: Literature-Extracted Genetic Variants

Gene:DYNC1H1
Variant:p.W1054S
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DYNC1H1

NM_001376.5:p.W1054S

Associated Papers

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.

Di Donato N et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

29671837 (PubMed )
Supplement: NIHMS934304-supplement-Supplementary_table_2.pdf
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