The molecular lesion is a C-to-T transition at chr4:129686542 (NCBI Build 37, mm9) which changes an arginine residue to a tryptophan at residue 619 (R619W) in the GAIN domain-encoding region of the encoded protein. (J:250129)
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The molecular lesion is a C-to-T transition at chr4:129686542 (NCBI Build 37, mm9) which changes an arginine residue to a tryptophan at residue 619 (R619W) in the GAIN domain-encoding region of the encoded protein. (J:250129)