Varaico: Literature-Extracted Genetic Variants

Gene:DYNC1H1
Variant:p.R3438Q
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DYNC1H1

NM_001376.5:p.R3438Q

Associated Papers

DYNC1H1-related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants.

Amabile S et al.

American Journal of Medical Genetics. Part A, 2020

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

Mutational signatures and chromosome alteration profiles of squamous cell carcinomas of the vulva.

Han MR et al.

Experimental & Molecular Medicine, 2018

29422544 (PubMed )
Supplement: emm2017265x2.pdf
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