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Table 1 Variants identified in the families with ID and neurodevelopmental disorders

From: Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families

Gene

cDNA

Protein

Mutation Taster

Provean

CADD Score

GERP_RS

VPS53

c.C605T

p.P202L

Disease_causing

Deleterious

10

3.83

GLB1

c.C1318T

p.H440Y

Disease_causing

Deleterious

30

5.35

MLC1

c.C959A

p.T320K

Disease_causing

Deleterious

29.9

3.9