Varaico: Literature-Extracted Genetic Variants

Gene:DNM1
Variant:p.S175F
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DNM1

NM_004408.4:p.S175F

Associated Papers

Cerebral Visual Impairment Characterized by Abnormal Visual Orienting Behavior With Preserved Visual Cortical Activation.

Kelly JP et al.

Investigative Ophthalmology & Visual Science, 2021

33984120 (PubMed )
Supplement: iovs-62-6-15_s003.pdf

Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.

Galer PD et al.

American Journal of Human Genetics, 2020

32853554 (PubMed )
Supplement: mmc2.xlsx › S6
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