https://jak-signaling.com/inde....x.php/a-novel-unfort
Just 11 people and 5 pathogenic variants of MVA2 being described so far. Intragenic replication of 11 nucleotides (c.915_925dup11) in homozygous or compound heterozygous state is the commonest genetic aberration (10/13). We explain the initial Indian family members with two siblings with a novel homozygous splice web site variant (c.382+2TC) in CEP57. Molecular characterization demonstrated skipping of exon 3 due into the variant with protein modeling predicting subsequent complete l
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