Varaico: Literature-Extracted Genetic Variants

Gene:DYNC1H1
Variant:p.S3360G
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DYNC1H1

NM_001376.5:p.S3360G

Associated Papers

Identification of a de novo DYNC1H1 mutation via WES according to published guidelines.

Ding D et al.

Scientific Reports, 2016

26846447 (PubMed )
Supplement: srep20423-s1.pdf

Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1.

Strickland AV et al.

Journal of Neurology, 2015

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