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Table 1 Frequency of genetic variants

From: Validation of a modified version of the gross motor function measure in PPPR5D related neurodevelopmental disorder

Genetic variant

Frequency

Glu198Lys

19

Glu200Lys

7

Glu420Lys

4

Asp251Ala

2

Asp251His

1

Asp251Try

1

Asp251Val

1

Glu197Lys

1

Glu200_Pro201delinsGlyHis

1

Trp207Arg

1

Total

38

  1. Frequency of the various genetic variants found in the 38 individuals with PPP2R5D related neurodevelopmental disorder who were evaluated for motor function testing.
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172