Varaico: Literature-Extracted Genetic Variants

Gene:MAB21L1
Variant:p.K248R
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MAB21L1

NM_005584.5:p.K248R

Associated Papers

Missense Mutations in MAB21L1: Causation of Novel Autosomal Dominant Ocular BAMD Syndrome.

Wang P et al.

Investigative Ophthalmology & Visual Science, 2023

36892533 (PubMed )
Supplement: iovs-64-3-19_s002.xlsx › Supplementary_table
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