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UnknownQuantifying constraint in the human mitochondrial genome.
Not available
S-EPMC11646341 | biostudies-literature
UnknownMitochondrial DNA variation across 56,434 individuals in gnomAD.
Not available
S-EPMC8896463 | biostudies-literature
UnknownTBC1D8B Mutations Implicate RAB11-Dependent Vesicular Trafficking in the Pathogenesis of Nephrotic Syndrome.
Not available
S-EPMC6900796 | biostudies-literature
UnknownMitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases.
Not available
S-EPMC11703311 | biostudies-literature
UnknownMitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases.
Not available
S-EPMC12278631 | biostudies-literature
UnknownWhole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.
Not available
S-EPMC6115658 | biostudies-literature
UnknownMutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.
Not available
S-EPMC7536580 | biostudies-literature
UnknownThe effect of LRRK2 loss-of-function variants in humans.
Not available
S-EPMC7303015 | biostudies-literature
UnknownA structural variation reference for medical and population genetics.
Not available
S-EPMC7334194 | biostudies-literature
UnknownDigenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.
Not available
S-EPMC10937387 | biostudies-literature
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