PMID 22668073 2012 Homozygous M34T mutation of the GJB2 gene associates with an autosomal recessive nonsyndromic sensorineural hearing impairment in Finnish families.
rs1057519464 in
HEXA gene and
hearing impairment
PMID 23852624 2014 Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility.
PMID 1532289 1992 Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals.
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