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Ecker, J., Brunner, S

L.HimelfarbM
Of the five domains assessed in the SRS, social communication and autism mannerisms were identified as the most problematic and contributed the most to the overall SRS total severity score

JAMA 297, 842857

The mutations can be heterozygous meaning they occur only on one strand or allele of the chromosome, or they can be homozygous, occurring on both alleles
