Varaico: Literature-Extracted Genetic Variants

Gene:MAB21L1
Variant:p.K2195_V2196Splc
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MAB21L1

NM_001385012.1:p.K2195_V2196Splc

Associated Papers

Analysis of 1386 epileptogenic brain lesions reveals association with DYRK1A and EGFR.

Boßelmann CM et al.

Nature Communications, 2024

39616148 (PubMed )
Supplement: 41467_2024_54911_MOESM6_ESM.xlsx › Supplementary_Data_4

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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